Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.L423V

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.L423V
c.1267C>G
Surrounding Variants
1 paper
NM_052813.5
p.L423del1
c.1267_1268delCAG
1 paper
NM_052813.5
p.T420A
c.1258A>G
1 paper
NM_052813.5
p.E419*
c.1255G>T
5 papers
NM_052813.5
p.L423_S424Splc
c.1269+18G>A
1 paper
NM_052813.5
p.R415W
c.1243C>T
1 paper
NM_052813.5
p.L413F
c.1237C>T
2 papers
NM_052813.5
p.E410*
c.1228G>T
1 paper
NM_052813.5
p.A408T
c.1222G>A
1 paper
NM_052813.5
p.Q405R
c.1214A>G
1 paper
NM_052813.5
p.C402insFs
c.1204_1205insC
1 paper
NM_052813.5
p.L395V
c.1183C>G
1 paper
NM_052813.5
p.A392E
c.1175C>A
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