Varaico: Literature-Extracted Genetic Variants

Gene:NHERF2
Variant:p.L112P

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.L112P
c.335T>C
Surrounding Variants
1 paper
NM_001130012.3
p.L112R
c.335T>G
1 paper
NM_001130012.3
p.L112insFs
c.335_336ins26
1 paper
NM_001130012.3
p.A115fs
c.343_344fs
1 paper
NM_001130012.3
p.D117delFs
c.349_350delGA
1 paper
NM_001130012.3
p.D117fs
c.349_350fs
1 paper
NM_001130012.3
p.P118L
c.353C>T
1 paper
NM_001130012.3
p.T102A
c.304A>G
1 paper
NM_001130012.3
p.L101V
c.301C>G
3 papers
NM_001130012.3
p.R99Q
c.296G>A
1 paper
NM_001130012.3
p.R99W
c.295C>T
1 paper
NM_001130012.3
p.S132S
c.396C>T
1 paper
NM_001130012.3
p.L85V
c.253C>G
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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."