Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.R65R

CHP1

483 papers

RefSeq Summary

This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a ...

Pfam Domains

EF-hand_1aa 114–142UCSCEF hand domain

Gene Aliases

HGNC Name

calcineurin like EF-hand protein 1

HGNC Alias Symbols

Sid470p; SLC9A1BP; p22; p24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007236.5
p.R65R
c.195G>A
Surrounding Variants
1 paper
NM_007236.5
p.D64E
c.192C>A
1 paper
NM_007236.5
p.D64E
c.192C>G
1 paper
NM_007236.5
p.D64A
c.191A>C
1 paper
NM_007236.5
p.D64V
c.191A>T
9 papers
NM_007236.5
p.D64N
c.190G>A
1 paper
NM_007236.5
p.I67N
c.200T>A
1 paper
NM_007236.5
p.L62P
c.185T>C
1 paper
NM_007236.5
p.L62L
c.184C>T
1 paper
NM_007236.5
p.P61insFs
c.182_183insG
1 paper
NM_007236.5
p.P61R
c.182C>G
1 paper
NM_007236.5
p.F70Y
c.209T>A
1 paper
NM_007236.5
p.I59I
c.177C>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."