Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.I28N

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.I28N
c.83T>A
Surrounding Variants
1 paper
NM_007236.5
p.Q27H
c.81A>T
1 paper
NM_007236.5
p.R30R
c.90C>A
1 paper
NM_007236.5
p.L31L
c.93C>G
1 paper
NM_007236.5
p.S24S
c.72C>A
1 paper
NM_007236.5
p.H25_S26delFs
c.75_76delCA
1 paper
NM_007236.5
p.Y32S
c.95A>C
1 paper
NM_007236.5
p.S24F
c.71C>T
3 papers
NM_007236.5
p.S33C
c.97A>T
1 paper
NM_007236.5
p.F23L
c.69T>G
1 paper
NM_007236.5
p.F23Splc
c.68-1G>A
1 paper
NM_007236.5
p.T36insFs
c.107_108insT
2 papers
NM_007236.5
p.T36I
c.107C>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."