Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.S46A

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
2 papers
NM_004252.5
p.S46A
c.136T>G
Surrounding Variants
1 paper
NM_004252.5
p.P47R
c.140C>G
4 papers
NM_004252.5
p.E43D
c.129G>C
4 papers
NM_004252.5
p.E43D
c.129G>T
2 papers
NM_004252.5
p.E43G
c.128A>G
1 paper
NM_004252.5
p.E43fs
c.127_128fs
1 paper
NM_004252.5
p.V42A
c.125T>C
1 paper
NM_004252.5
p.K50N
c.150G>C
1 paper
NM_004252.5
p.K50N
c.150G>T
1 paper
NM_004252.5
p.A51A
c.153G>A
1 paper
NM_004252.5
p.R40W
c.118C>T
1 paper
NM_004252.5
p.Q37R
c.110A>G
1 paper
NM_004252.5
p.G36D
c.107G>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."