Varaico: Literature-Extracted Genetic Variants

Gene:CRACR2A
Variant:p.L640M

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.L640M
c.1918C>A
Surrounding Variants
4 papers
NM_001144958.2
p.V643M
c.1927G>A
1 paper
NM_001144958.2
p.D626N
c.1876G>A
1 paper
NM_001144958.2
p.Y625Y
c.1875C>T
1 paper
NM_001144958.2
p.R608Q
c.1823G>A
2 papers
NM_001144958.2
p.Q604L
c.1811A>T
1 paper
NM_001144958.2
p.G579Splc
c.1736-5T>G
1 paper
NM_001144958.2
p.F570L
c.1710C>G
1 paper
NM_001144958.2
p.F570L
c.1710C>A
1 paper
NM_001144958.2
p.F570L
c.1708T>C
1 paper
NM_001144958.2
p.S560S
c.1680C>T
2 papers
NM_001144958.2
p.R544W
c.1630C>T
1 paper
NM_001144958.2
p.A541V
c.1622C>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."