Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.L308del1

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.L308del1
c.922_923delGAG
Surrounding Variants
1 paper
NM_052813.5
p.D307V
c.920A>T
1 paper
NM_052813.5
p.A313T
c.937G>A
1 paper
NM_052813.5
p.A313A
c.939C>T
1 paper
NM_052813.5
p.R305G
c.913C>G
1 paper
NM_052813.5
p.L304L
c.910C>T
1 paper
NM_052813.5
p.R315H
c.944G>A
6 papers
NM_052813.5
p.F302_S303del1
c.905_907delAGA
1 paper
NM_052813.5
p.S303A
c.907T>G
1 paper
NM_052813.5
p.F302I
c.904T>A
8 papers
NM_052813.5
p.R317R
c.951G>A
1 paper
NM_052813.5
p.I301V
c.901A>G
1 paper
NM_052813.5
p.Q295H
c.885G>C
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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."