Varaico: Literature-Extracted Genetic Variants

Gene:CRACR2A
Variant:p.E431del1

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
3 papers
NM_001144958.2
p.E431del1
c.1291_1292delCTC
Surrounding Variants
1 paper
NM_001144958.2
p.V432L
c.1294G>C
1 paper
NM_001144958.2
p.E431_V432del2
c.1291_1295del6
1 paper
NM_001144958.2
p.E450K
c.1348G>A
1 paper
NM_001144958.2
p.G456A
c.1367G>C
1 paper
NM_001144958.2
p.E457D
c.1371G>T
1 paper
NM_001144958.2
p.E457D
c.1371G>C
1 paper
NM_001144958.2
p.P460S
c.1378C>T
1 paper
NM_001144958.2
p.Y464fs
c.1390_1391fs
2 papers
NM_001144958.2
p.R466W
c.1396C>T
1 paper
NM_001144958.2
p.R470*
c.1408A>T
1 paper
NM_001144958.2
p.P463_R469delFs
c.1389_1407del19
1 paper
NM_001144958.2
p.V474I
c.1420G>A
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