SREBF2 c.1867G>A ;(p.V623M)

Variant ID: 22-42276825-G-A

NM_004599.3(SREBF2):c.1867G>A;(p.V623M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: SREBF2: 1867G>A; V623M
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2229440
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SREBF2: V623M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Sequence diversity in genes of lipid metabolism.

Genome Research
Garcia, C K CK; Mues, G G; Liao, Y Y; Hyatt, T T; Patil, N N; Cohen, J C JC; Hobbs, H H HH
Publication Date: 2001-06

Variant appearance in text: SREBF2: V623M
PubMed Link: 11381031
Variant Present in the following documents:
  • Main text
View BVdb publication page