KRT17 c.296T>C ;(p.L99P)

Variant ID: 17-39780466-A-G

NM_000422.2(KRT17):c.296T>C;(p.L99P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: KRT17: 296T>C; Leu99Pro
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: KRT17: 296T>C
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Human Genomics
Elango, Tamilselvi T; Sun, Jingying J; Zhu, Caihong C; Zhou, Fusheng F; Zhang, Yaohua Y; Sun, Liangdan L; Yang, Sen S; Zhang, Xuejun X
Publication Date: 2018-05-21

Variant appearance in text: KRT17: 296T>C; Leu99Pro
PubMed Link: 29784039
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_158.pdf
View BVdb publication page



Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.

Indian Journal Of Dermatology
Agarwala, Manoj M; Salphale, Pankaj P; Peter, Dincy D; Wilson, Neil J NJ; Pulimood, Susanne S; Schwartz, Mary E ME; Smith, Frances J D FJD
Publication Date: 2017

Variant appearance in text: KRT17: 296T>C; Leu99Pro
PubMed Link: 28794556
Variant Present in the following documents:
  • Main text
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: KRT17: L99P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The molecular genetic analysis of the expanding pachyonychia congenita case collection.

The British Journal Of Dermatology
Wilson, N J NJ; O'Toole, E A EA; Milstone, L M LM; Hansen, C D CD; Shepherd, A A AA; Al-Asadi, E E; Schwartz, M E ME; McLean, W H I WH; Sprecher, E E; Smith, F J D FJ
Publication Date: 2014-08

Variant appearance in text: KRT17: 296T>C; Leu99Pro
PubMed Link: 24611874
Variant Present in the following documents:
  • Main text
  • bjd0171-0343.pdf
View BVdb publication page