APC c.758G>A ;(p.G253D)

Variant ID: 5-112137004-G-A

NM_000038.5(APC):c.758G>A;(p.G253D)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: APC: G253D
PubMed Link: 30719162
Variant Present in the following documents:
  • Main text
  • jcav10p0643.pdf
View BVdb publication page



Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.

Free Radical Biology & Medicine
Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS
Publication Date: 2017-06

Variant appearance in text: APC: G253D
PubMed Link: 28087410
Variant Present in the following documents:
  • Main text
View BVdb publication page



Base excision repair and cancer.

Cancer Letters
Wallace, Susan S SS; Murphy, Drew L DL; Sweasy, Joann B JB
Publication Date: 2012-12-31

Variant appearance in text: APC: Gly253Asp
PubMed Link: 22252118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition.

Dna Repair
Kundu, Sucharita S; Brinkmeyer, Megan K MK; Eigenheer, Richard A RA; David, Sheila S SS
Publication Date: 2010-10-05

Variant appearance in text: APC: G253D
PubMed Link: 20724227
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Dna Repair
Kundu, Sucharita S; Brinkmeyer, Megan K MK; Livingston, Alison L AL; David, Sheila S SS
Publication Date: 2009-12-03

Variant appearance in text: APC: G253D
PubMed Link: 19836313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Gastroenterology
Ali, Mohsin M; Kim, Hyeja H; Cleary, Sean S; Cupples, Claire C; Gallinger, Steven S; Bristow, Robert R
Publication Date: 2008-08

Variant appearance in text: APC: G253D
PubMed Link: 18534194
Variant Present in the following documents:
  • Main text
View BVdb publication page



A functional analysis of the DNA glycosylase activity of mouse MUTYH protein excising 2-hydroxyadenine opposite guanine in DNA.

Nucleic Acids Research
Ushijima, Yasuhiro Y; Tominaga, Yohei Y; Miura, Tomofumi T; Tsuchimoto, Daisuke D; Sakumi, Kunihiko K; Nakabeppu, Yusaku Y
Publication Date: 2005

Variant appearance in text: APC: G253D
PubMed Link: 15681617
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.

Nucleic Acids Research
Bai, Haibo H; Jones, Siân S; Guan, Xin X; Wilson, Teresa M TM; Sampson, Julian R JR; Cheadle, Jeremy P JP; Lu, A-Lien AL
Publication Date: 2005

Variant appearance in text: APC: G253D
PubMed Link: 15673720
Variant Present in the following documents:
  • Main text
  • gki209.pdf
View BVdb publication page