Varaico: Literature-Extracted Genetic Variants

XAF1

57 papers

RefSeq Summary

This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are act...

Pfam Domains

Znf_XAF1_Naa 1–30UCSCXIAP-associated factor 1-like, N-terminal zinc finger

TRAFD1-XIAF1_ZnFaa 84–132UCSCTRAFD1/XAF1, zinc finger

XAF1_Caa 248–301UCSCXIAP-associated factor 1 C-terminal domain

Gene Aliases

HGNC Name

XIAP associated factor 1

HGNC Alias Symbols

BIRC4BP; XIAPAF1; HSXIAPAF1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

23 papers

NM_017523.5

p.E134*

c.400G>T

4 papers

NM_017523.5

p.L33R

c.98T>G

3 papers

NM_017523.5

p.E85G

c.254A>G

2 papers

NM_017523.5

p.R132H

c.395G>A

1 paper

NM_017523.5

p.M1T

c.2T>C

1 paper

NM_017523.5

p.H14L

c.41A>T

1 paper

NM_017523.5

p.V41I

c.121G>A

1 paper

NM_017523.5

p.E72D

c.216G>C

1 paper

NM_017523.5

p.E72D

c.216G>T

1 paper

NM_017523.5

p.K75_A76Splc

c.225+1G>T

1 paper

NM_017523.5

p.A76G

c.227C>G

1 paper

NM_017523.5

p.E78A

c.233A>C