Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.C454R

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
1 paper
NM_052813.5
p.C454R
c.1360T>C
Surrounding Variants
1 paper
NM_052813.5
p.C454Y
c.1361G>A
1 paper
NM_052813.5
p.P464L
c.1391C>T
22 papers
NM_052813.5
p.H478_D479Splc
c.1434+1G>C
1 paper
NM_052813.5
p.H478_D479Splc
c.1435-2A>G
1 paper
NM_052813.5
p.D479H
c.1435G>C
1 paper
NM_052813.5
p.G485W
c.1453G>T
1 paper
NM_052813.5
p.R494H
c.1481G>A
1 paper
NM_052813.5
p.R493_L495del3
c.1477_1484del9
1 paper
NM_052813.5
p.S498fs
c.1492_1493fs
1 paper
NM_052813.5
p.S498delFs
c.1492_1493delCT
5 papers
NM_052813.5
p.R509K
c.1526G>A
4 papers
NM_052813.5
p.Q512*
c.1534C>T
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