Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.E9K

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
2 papers
NM_052813.5
p.E9K
c.25G>A
Surrounding Variants
1 paper
NM_052813.5
p.E9D
c.27G>T
1 paper
NM_052813.5
p.D8N
c.22G>A
5 papers
NM_052813.5
p.D8fs
c.22_23fs
2 papers
NM_052813.5
p.D8_C10delFs
c.23_29del7
1 paper
NM_052813.5
p.D7N
c.19G>A
1 paper
NM_052813.5
p.S12I
c.35G>T
48 papers
NM_052813.5
p.S12N
c.35G>A
1 paper
NM_052813.5
p.S12delFs
c.35delC
1 paper
NM_052813.5
p.E5insFs
c.13dupG
1 paper
NM_052813.5
p.Y4H
c.10T>C
1 paper
NM_052813.5
p.S2*
c.5C>A
9 papers
NM_052813.5
p.M1I
c.3G>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."