Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L444P

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.L444P
c.1331T>C
Surrounding Variants
2 papers
NM_001167.4
p.R443H
c.1328G>A
3 papers
NM_001167.4
p.R443P
c.1328G>C
1 paper
NM_001167.4
p.E446Q
c.1336G>C
1 paper
NM_001167.4
p.E446A
c.1337A>C
1 paper
NM_001167.4
p.E447*
c.1339G>T
2 papers
NM_001167.4
p.K448_L449insC
c.1342_1346ins3
1 paper
NM_001167.4
p.K448Q
c.1342A>C
1 paper
NM_001167.4
p.L449F
c.1345C>T
1 paper
NM_001167.4
p.E439insFs
c.1315dupG
1 paper
NM_001167.4
p.C450F
c.1349G>T
1 paper
NM_001167.4
p.E438*
c.1312G>T
1 paper
NM_001167.4
p.T437I
c.1310C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."