Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.I93L

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
4 papers
NM_007236.5
p.I93L
c.277A>C
Surrounding Variants
1 paper
NM_007236.5
p.P92T
c.274C>A
2 papers
NM_007236.5
p.R91C
c.271C>T
2 papers
NM_007236.5
p.N96D
c.286A>G
1 paper
NM_007236.5
p.H89Y
c.265C>T
2 papers
NM_007236.5
p.A88T
c.262G>A
1 paper
NM_007236.5
p.D101H
c.301G>C
1 paper
NM_007236.5
p.M84I
c.252G>A
2 papers
NM_007236.5
p.D101E
c.303T>A
2 papers
NM_007236.5
p.N103insFs
c.308_309insA
1 paper
NM_007236.5
p.N103S
c.308A>G
1 paper
NM_007236.5
p.G82R
c.244G>A
1 paper
NM_007236.5
p.G82R
c.244G>C
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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."