Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.V182M

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.V182M
c.544G>A
Surrounding Variants
1 paper
NM_004252.5
p.S181A
c.541T>G
1 paper
NM_004252.5
p.D183E
c.549C>A
1 paper
NM_004252.5
p.D183E
c.549C>G
2 papers
NM_004252.5
p.R180Q
c.539G>A
5 papers
NM_004252.5
p.R180W
c.538C>T
1 paper
NM_004252.5
p.F178Y
c.533T>A
1 paper
NM_004252.5
p.S186T
c.556T>A
1 paper
NM_004252.5
p.A190D
c.569C>A
4 papers
NM_004252.5
p.K172N
c.516G>C
4 papers
NM_004252.5
p.K172N
c.516G>T
1 paper
NM_004252.5
p.G192G
c.576G>A
1 paper
NM_004252.5
p.D171N
c.511G>A
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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."