Varaico: Literature-Extracted Genetic Variants

Gene:CHP1

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
1–12 of 201 variants
9 papers
NM_007236.5
p.I54V
c.160A>G
9 papers
NM_007236.5
p.D64N
c.190G>A
6 papers
NM_007236.5
p.M1T
c.2T>C
5 papers
NM_007236.5
p.M1V
c.1A>G
5 papers
NM_007236.5
p.I54M
c.162T>G
5 papers
NM_007236.5
p.I147L
c.439A>C
4 papers
NM_007236.5
p.G74Splc
c.221+1G>A
4 papers
NM_007236.5
p.I93L
c.277A>C
3 papers
NM_007236.5
p.M1delFs
c.2delT
3 papers
NM_007236.5
p.S33C
c.97A>T
3 papers
NM_007236.5
p.S47Splc
c.140+1G>A
3 papers
NM_007236.5
p.Q161*
c.481C>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."