Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.K18del1

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
2 papers
NM_007236.5
p.K18del1
c.52_54delAAG
Surrounding Variants
1 paper
NM_007236.5
p.I17L
c.49A>C
1 paper
NM_007236.5
p.I17V
c.49A>G
1 paper
NM_007236.5
p.K18M
c.53A>T
1 paper
NM_007236.5
p.K19E
c.55A>G
2 papers
NM_007236.5
p.E20K
c.58G>A
1 paper
NM_007236.5
p.E20A
c.59A>C
1 paper
NM_007236.5
p.E13D
c.39G>C
1 paper
NM_007236.5
p.G22C
c.64G>T
1 paper
NM_007236.5
p.E13insFs
c.37_38insCT
1 paper
NM_007236.5
p.E12E
c.36A>G
1 paper
NM_007236.5
p.F23delFs
c.67delT
2 papers
NM_007236.5
p.E12K
c.34G>A
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