Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.R220K

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.R220K
c.659G>A
Surrounding Variants
1 paper
NM_004252.5
p.A218V
c.653C>T
1 paper
NM_004252.5
p.A218T
c.652G>A
1 paper
NM_004252.5
p.A218fs
c.652_653fs
1 paper
NM_004252.5
p.S217F
c.650C>T
1 paper
NM_004252.5
p.S217delFs
c.651delC
17 papers
NM_004252.5
p.E225K
c.673G>A
1 paper
NM_004252.5
p.V215M
c.643G>A
1 paper
NM_004252.5
p.G209G
c.627G>A
1 paper
NM_004252.5
p.V231A
c.692T>C
1 paper
NM_004252.5
p.G209_K210insFs
c.627_630dup4
1 paper
NM_004252.5
p.R233W
c.697A>T
1 paper
NM_004252.5
p.C206S
c.616T>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."