Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.L354I

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.L354I
c.1060C>A
Surrounding Variants
1 paper
NM_004252.5
p.E353D
c.1059A>C
1 paper
NM_004252.5
p.E353D
c.1059A>T
2 papers
NM_004252.5
p.E353A
c.1058A>C
1 paper
NM_004252.5
p.E353G
c.1058A>G
1 paper
NM_004252.5
p.K350N
c.1050G>C
1 paper
NM_004252.5
p.K350N
c.1050G>T
1 paper
NM_004252.5
p.L358F
c.1072C>T
1 paper
NM_004252.5
p.*359insFs
c.1076_1077dupGA
1 paper
NM_004252.5
p.K341R
c.1022A>G
1 paper
NM_004252.5
p.A330T
c.988G>A
1 paper
NM_004252.5
p.I325V
c.973A>G
1 paper
NM_004252.5
p.P319L
c.956C>T
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."