Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.E42Q

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.E42Q
c.124G>C
Surrounding Variants
1 paper
NM_007236.5
p.E42K
c.124G>A
1 paper
NM_007236.5
p.E42A
c.125A>C
1 paper
NM_007236.5
p.E42V
c.125A>T
1 paper
NM_007236.5
p.G41delFs
c.123delA
1 paper
NM_007236.5
p.N43_L46delFs
c.128_138del11
1 paper
NM_007236.5
p.N43I
c.128A>T
1 paper
NM_007236.5
p.N43N
c.129T>C
1 paper
NM_007236.5
p.T45A
c.133A>G
1 paper
NM_007236.5
p.T36insFs
c.107_108insT
2 papers
NM_007236.5
p.T36I
c.107C>T
3 papers
NM_007236.5
p.S47Splc
c.140+1G>A
3 papers
NM_007236.5
p.S33C
c.97A>T
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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."