Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.N341delFs

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
11 papers
NM_001167.4
p.N341delFs
c.1021_1022delAA
Surrounding Variants
1 paper
NM_001167.4
p.N341fs
c.1021_1022fs
2 papers
NM_001167.4
p.N340S
c.1019A>G
1 paper
NM_001167.4
p.N341fs
c.1021_1022fs
1 paper
NM_001167.4
p.N341_I342delFs
c.1023_1026del4
1 paper
NM_001167.4
p.I342fs
c.1024_1025fs
1 paper
NM_001167.4
p.I342delFs
c.1026delT
1 paper
NM_001167.4
p.H343N
c.1027C>A
1 paper
NM_001167.4
p.H343P
c.1028A>C
1 paper
NM_001167.4
p.L344*
c.1031T>A
3 papers
NM_001167.4
p.Q336*
c.1006C>T
1 paper
NM_001167.4
p.T345I
c.1034C>T
2 papers
NM_001167.4
p.H346_S347delFs
c.1038_1041del4
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