Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.E109V

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.E109V
c.326A>T
Surrounding Variants
2 papers
NM_004252.5
p.E109*
c.325G>T
19 papers
NM_004252.5
p.L110V
c.328C>G
1 paper
NM_004252.5
p.R112R
c.336C>G
1 paper
NM_004252.5
p.Q98delFs
c.292_293delCA
2 papers
NM_004252.5
p.T95A
c.283A>G
1 paper
NM_004252.5
p.A126P
c.376G>C
1 paper
NM_004252.5
p.D92N
c.274G>A
1 paper
NM_004252.5
p.V128E
c.383T>A
1 paper
NM_004252.5
p.G132D
c.395G>A
1 paper
NM_004252.5
p.E136K
c.406G>A
1 paper
NM_004252.5
p.A82S
c.244G>T
2 papers
NM_004252.5
p.A81T
c.241G>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."