Varaico: Literature-Extracted Genetic Variants

Gene:CRACR2A
Variant:p.Q76_R77Splc

CRACR2A

90 papers

Pfam Domains

EF-hand_7aa 52–114UCSCEF-hand domain pair
EFCAB4A_helicalaa 173–246UCSCEFCAB4A helical domain
Rasaa 547–708UCSCRas family

Gene Aliases

HGNC Name

calcium release activated channel regulator 2A

HGNC Previous Symbol

EFCAB4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144958.2
p.Q76_R77Splc
c.229-3C>T
Surrounding Variants
1 paper
NM_001144958.2
p.E87insFs
c.259_260insA
1 paper
NM_001144958.2
p.D97A
c.290A>C
1 paper
NM_001144958.2
p.D99A
c.296A>C
1 paper
NM_001144958.2
p.E108Q
c.322G>C
1 paper
NM_001144958.2
p.T110S
c.328A>T
1 paper
NM_001144958.2
p.T110S
c.329C>G
1 paper
NM_001144958.2
p.G112fs
c.334_335fs
2 papers
NM_001144958.2
p.A128V
c.383C>T
1 paper
NM_001144958.2
p.E130K
c.388G>A
2 papers
NM_001144958.2
p.R144G
c.430A>G
1 paper
NM_001144958.2
p.R144delFs
c.431_432delTC
3 papers
NM_001144958.2
p.E154K
c.460G>A
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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."