Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.G160R

NHERF1

158 papers

RefSeq Summary

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-pro...

Pfam Domains

PDZ_6aa 38–92UCSCPDZ domain
PDZaa 154–231UCSCPDZ domain
EBP50_Caa 235–358UCSCEBP50, C-terminal

Gene Aliases

HGNC Name

NHERF family PDZ scaffold protein 1

HGNC Previous Symbol

SLC9A3R1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004252.5
p.G160R
c.478G>C
Surrounding Variants
1 paper
NM_004252.5
p.G160D
c.479G>A
1 paper
NM_004252.5
p.S162G
c.484A>G
1 paper
NM_004252.5
p.T156P
c.466A>C
3 papers
NM_004252.5
p.T156A
c.466A>G
2 papers
NM_004252.5
p.C155Y
c.464G>A
1 paper
NM_004252.5
p.G165A
c.494G>C
25 papers
NM_004252.5
p.R153Q
c.458G>A
1 paper
NM_004252.5
p.N167H
c.499A>C
1 paper
NM_004252.5
p.E149K
c.445G>A
1 paper
NM_004252.5
p.D171N
c.511G>A
1 paper
NM_004252.5
p.R148delFs
c.443delG
1 paper
NM_004252.5
p.R148fs
c.442_443fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."