Varaico: Literature-Extracted Genetic Variants

Gene:NHERF2
Variant:p.G27A

NHERF2

57 papers

RefSeq Summary

This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein inte...

Pfam Domains

PDZaa 12–88UCSCPDZ domain
PDZaa 151–228UCSCPDZ domain
EBP50_Caa 232–337UCSCEBP50, C-terminal

Gene Aliases

HGNC Name

NHERF family PDZ scaffold protein 2

HGNC Previous Symbol

SLC9A3R2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130012.3
p.G27A
c.80G>C
Surrounding Variants
1 paper
NM_001130012.3
p.G27S
c.79G>A
1 paper
NM_001130012.3
p.E28K
c.82G>A
1 paper
NM_001130012.3
p.R37Q
c.110G>A
1 paper
NM_001130012.3
p.A47G
c.140C>G
1 paper
NM_001130012.3
p.P4Q
c.11C>A
1 paper
NM_001130012.3
p.P4L
c.11C>T
1 paper
NM_001130012.3
p.V57A
c.170T>C
1 paper
NM_001130012.3
p.Q71*
c.211C>T
1 paper
NM_001130012.3
p.V72L
c.214G>C
1 paper
NM_001130012.3
p.V72L
c.214G>T
1 paper
NM_001130012.3
p.R75R
c.225G>A
1 paper
NM_001130012.3
p.L85V
c.253C>G
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