Varaico: Literature-Extracted Genetic Variants

Gene:CHP2
Variant:p.R36_A37delins

CHP2

21 papers

RefSeq Summary

This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and...

Pfam Domains

EF-hand_5aa 31–55UCSCEF hand
EF-hand_1aa 115–143UCSCEF hand domain

Gene Aliases

HGNC Name

calcineurin like EF-hand protein 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022097.4
p.R36_A37delins
c.108_109delinsTT
Surrounding Variants
1 paper
NM_022097.4
p.R36Q
c.107G>A
1 paper
NM_022097.4
p.A37S
c.109G>T
1 paper
NM_022097.4
p.R40K
c.119G>A
1 paper
NM_022097.4
p.K42_Y45del0
c.126_134del9
2 papers
NM_022097.4
p.V59M
c.175G>A
1 paper
NM_022097.4
p.P72R
c.215C>G
1 paper
NM_022097.4
p.D73N
c.217G>A
1 paper
NM_022097.4
p.T100_K105delFs
c.300_315del16
1 paper
NM_022097.4
p.E107A
c.320A>C
1 paper
NM_022097.4
p.K115_L116insFs
c.345_346insC
1 paper
NM_022097.4
p.D126_H134del9
c.376_401del27
1 paper
NM_022097.4
p.D128Y
c.382G>T
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