Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R509K

CARD9

297 papers

RefSeq Summary

The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interactio...

Pfam Domains

CARDaa 11–97UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

caspase recruitment domain family member 9

HGNC Previous Name

caspase recruitment domain family, member 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_052813.5
p.R509K
c.1526G>A
Surrounding Variants
4 papers
NM_052813.5
p.Q512*
c.1534C>T
1 paper
NM_052813.5
p.R516W
c.1546C>T
1 paper
NM_052813.5
p.E520fs
c.1558_1559fs
2 papers
NM_052813.5
p.E520delFs
c.1558delC
1 paper
NM_052813.5
p.E520fs
c.1558_1559fs
1 paper
NM_052813.5
p.E523Q
c.1567G>C
1 paper
NM_052813.5
p.E523K
c.1567G>A
1 paper
NM_052813.5
p.T531A
c.1591A>G
1 paper
NM_052813.5
p.D532D
c.1596C>T
1 paper
NM_052813.5
p.S498delFs
c.1492_1493delCT
1 paper
NM_052813.5
p.S498fs
c.1492_1493fs
1 paper
NM_052813.5
p.R493_L495del3
c.1477_1484del9
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