Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3
Variant:p.S219C

TRAF3

301 papers

RefSeq Summary

The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF rec...

Pfam Domains

TRAF3_RINGaa 53–92UCSCTNF receptor-associated factor 2/3/5, RING domain
zf-TRAFaa 136–192UCSCTRAF-type zinc finger
zf-TRAFaa 136–192UCSCTRAF-type zinc finger
zf-TRAFaa 192–251UCSCTRAF-type zinc finger
zf-TRAFaa 192–251UCSCTRAF-type zinc finger
TRAF-mep_MATHaa 437–557UCSCTRAF/meprin, MATH domain

Gene Aliases

HGNC Name

TNF receptor associated factor 3

HGNC Alias Symbols

CAP-1; CD40bp; CRAF1; LAP1; RNF118

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145725.3
p.S219C
c.655A>T
Surrounding Variants
1 paper
NM_145725.3
p.S219Fs
c.656delinsCAFs
1 paper
NM_145725.3
p.A220V
c.659C>T
1 paper
NM_145725.3
p.E217_L218Splc
c.652-7G>A
1 paper
NM_145725.3
p.E224*
c.670G>T
1 paper
NM_145725.3
p.E224_P229Fs
c.672_685delinsGFs
1 paper
NM_145725.3
p.N227I
c.680A>T
1 paper
NM_145725.3
p.A228Fs
c.682delinsGCFs
1 paper
NM_145725.3
p.S230fs
c.688_689fs
1 paper
NM_145725.3
p.C232Fs
c.694delinsGTFs
1 paper
NM_145725.3
p.C232R
c.694T>C
1 paper
NM_145725.3
p.C232*
c.696T>A
1 paper
NM_145725.3
p.F234Fs
c.702delinsCAFs
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