CFTR c.173A>C ;(p.D58A)

Variant ID: 7-117149096-A-C

NM_000492.3(CFTR):c.173A>C;(p.D58A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications
Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK
Publication Date: 2020-10-16

Variant appearance in text: CFTR: 173A>C
PubMed Link: 33067454
Variant Present in the following documents:
  • 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.

The Journal Of Physiology
Fu, J J; Ji, H L HL; Naren, A P AP; Kirk, K L KL
Publication Date: 2001-10-15

Variant appearance in text: CFTR: D58A
PubMed Link: 11600681
Variant Present in the following documents:
  • Main text
View BVdb publication page