Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.K114E

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.K114E
c.340A>G
Surrounding Variants
2 papers
NM_007236.5
p.N113K
c.339C>A
1 paper
NM_007236.5
p.N113K
c.339C>G
1 paper
NM_007236.5
p.N113D
c.337A>G
1 paper
NM_007236.5
p.L115P
c.344T>C
1 paper
NM_007236.5
p.S112delFs
c.335_336delGC
1 paper
NM_007236.5
p.H116Y
c.346C>T
1 paper
NM_007236.5
p.F117Splc
c.349+2T>C
1 paper
NM_007236.5
p.F117Splc
c.349+5G>T
1 paper
NM_007236.5
p.L108I
c.322C>A
1 paper
NM_007236.5
p.L108insFs
c.323_324ins10
1 paper
NM_007236.5
p.N103S
c.308A>G
2 papers
NM_007236.5
p.N103insFs
c.308_309insA
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