Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.T71A

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.T71A
c.211A>G
Surrounding Variants
1 paper
NM_004252.5
p.K69*
c.205A>T
8 papers
NM_004252.5
p.E68A
c.203A>C
1 paper
NM_004252.5
p.Q74*
c.220C>T
1 paper
NM_004252.5
p.N66K
c.198C>A
1 paper
NM_004252.5
p.V75E
c.224T>A
1 paper
NM_004252.5
p.E61G
c.182A>G
2 papers
NM_004252.5
p.A81T
c.241G>A
1 paper
NM_004252.5
p.V60G
c.179T>G
1 paper
NM_004252.5
p.A82S
c.244G>T
1 paper
NM_004252.5
p.L59Q
c.176T>A
1 paper
NM_004252.5
p.A55A
c.165G>A
1 paper
NM_004252.5
p.A51A
c.153G>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."