Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.D168G

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.D168G
c.503A>G
Surrounding Variants
2 papers
NM_007236.5
p.G167A
c.500G>C
1 paper
NM_007236.5
p.A170T
c.508G>A
1 paper
NM_007236.5
p.A170P
c.508G>C
2 papers
NM_007236.5
p.A163G
c.488C>G
1 paper
NM_007236.5
p.A163S
c.487G>T
1 paper
NM_007236.5
p.T174A
c.520A>G
1 paper
NM_007236.5
p.E162A
c.485A>C
1 paper
NM_007236.5
p.T174I
c.521C>T
1 paper
NM_007236.5
p.E175A
c.524A>C
3 papers
NM_007236.5
p.Q161*
c.481C>T
1 paper
NM_007236.5
p.Q161_A163delFs
c.482_488del7
1 paper
NM_007236.5
p.R158R
c.474G>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."