Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.I54M

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
5 papers
NM_007236.5
p.I54M
c.162T>G
Surrounding Variants
1 paper
NM_007236.5
p.I54L
c.160A>C
9 papers
NM_007236.5
p.I54V
c.160A>G
2 papers
NM_007236.5
p.P55R
c.164C>G
1 paper
NM_007236.5
p.Q52_I54del3
c.154_161del9
1 paper
NM_007236.5
p.L57L
c.171T>A
1 paper
NM_007236.5
p.I59F
c.175A>T
1 paper
NM_007236.5
p.I59I
c.177C>A
1 paper
NM_007236.5
p.R48L
c.143G>T
1 paper
NM_007236.5
p.P61insFs
c.182_183insG
2 papers
NM_007236.5
p.R48G
c.142C>G
1 paper
NM_007236.5
p.P61R
c.182C>G
1 paper
NM_007236.5
p.R48W
c.142C>T
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