Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.V138A

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.V138A
c.413T>C
Surrounding Variants
1 paper
NM_007236.5
p.L139L
c.415C>T
1 paper
NM_007236.5
p.Q137_V138Splc
c.412-1G>A
1 paper
NM_007236.5
p.R140L
c.419G>T
1 paper
NM_007236.5
p.V143_V145del3
c.427_434del9
2 papers
NM_007236.5
p.V143A
c.428T>C
1 paper
NM_007236.5
p.V145I
c.433G>A
2 papers
NM_007236.5
p.V145A
c.434T>C
5 papers
NM_007236.5
p.I147L
c.439A>C
1 paper
NM_007236.5
p.S148T
c.442T>A
1 paper
NM_007236.5
p.E150*
c.448G>T
1 paper
NM_007236.5
p.Q151K
c.451C>A
1 paper
NM_007236.5
p.Q151L
c.452A>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."