Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.S299A

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.S299A
c.895T>G
Surrounding Variants
4 papers
NM_004252.5
p.D301V
c.902A>T
1 paper
NM_004252.5
p.D301E
c.903C>A
1 paper
NM_004252.5
p.D301E
c.903C>G
1 paper
NM_004252.5
p.A310T
c.928G>A
1 paper
NM_004252.5
p.A310V
c.929C>T
1 paper
NM_004252.5
p.S312L
c.935C>T
1 paper
NM_004252.5
p.S313F
c.938C>T
1 paper
NM_004252.5
p.S316F
c.947C>T
1 paper
NM_004252.5
p.D318N
c.952G>A
1 paper
NM_004252.5
p.P319L
c.956C>T
1 paper
NM_004252.5
p.I320del1
c.958_960delATC
1 paper
NM_004252.5
p.I325V
c.973A>G
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