Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.K254fs

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.K254fs
c.760_761fs
Surrounding Variants
5 papers
NM_052813.5
p.E253insFs
c.759dupG
6 papers
NM_052813.5
p.K254fs
c.760_761fs
1 paper
NM_052813.5
p.E253Q
c.757G>C
1 paper
NM_052813.5
p.E249K
c.745G>A
1 paper
NM_052813.5
p.R260Q
c.779G>A
1 paper
NM_052813.5
p.R260R
c.780G>A
3 papers
NM_052813.5
p.V261fs
c.781_782fs
3 papers
NM_052813.5
p.V261delFs
c.781delC
5 papers
NM_052813.5
p.V261fs
c.781_782fs
2 papers
NM_052813.5
p.R241Q
c.722G>A
2 papers
NM_052813.5
p.S267F
c.800C>T
1 paper
NM_052813.5
p.Q240R
c.719A>G
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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."