Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L410L

XIAP

484 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-...

Pfam Domains

BIRaa 29–94UCSCInhibitor of Apoptosis domain
BIRaa 166–231UCSCInhibitor of Apoptosis domain
BIRaa 268–331UCSCInhibitor of Apoptosis domain
UBA_BIRC2-3aa 369–420UCSCBIRC2/3-like, UBA domain
zf-C3HC4_3aa 446–490UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

X-linked inhibitor of apoptosis

HGNC Previous Symbols

API3; BIRC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167.4
p.L410L
c.1230G>A
Surrounding Variants
1 paper
NM_001167.4
p.L410L
c.1228C>T
1 paper
NM_001167.4
p.A412V
c.1235C>T
1 paper
NM_001167.4
p.D413_L414insFs
c.1239_1242dup4
1 paper
NM_001167.4
p.L407_E408ins6
c.1219_1223ins18
1 paper
NM_001167.4
p.V415M
c.1243G>A
1 paper
NM_001167.4
p.V415fs
c.1243_1244fs
2 papers
NM_001167.4
p.S406A
c.1216T>G
1 paper
NM_001167.4
p.N416D
c.1246A>G
1 paper
NM_001167.4
p.Y404C
c.1211A>G
1 paper
NM_001167.4
p.Q418fs
c.1252_1253fs
2 papers
NM_001167.4
p.Q418_K419delFs
c.1253_1256del4
1 paper
NM_001167.4
p.K419fs
c.1255_1256fs
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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."