Varaico: Literature-Extracted Genetic Variants

Gene:DCST1
Variant:p.A224T

DCST1

62 papers

RefSeq Summary

This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript vari...

Pfam Domains

Dcst2aa 120–203UCSCDcst2 domain
Dcst2aa 120–203UCSCDcst2 domain
DC_STAMPaa 405–595UCSCDC-STAMP-like protein
zf-RING_DCST1_Caa 644–687UCSCE3 ubiquitin-protein ligase DCST1-like, C-terminal RING domain

Gene Aliases

HGNC Name

DC-STAMP domain containing 1

HGNC Alias Symbol

FLJ32785

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152494.4
p.A224T
c.670G>A
Surrounding Variants
1 paper
NM_152494.4
p.E204fs
c.610_611fs
1 paper
NM_152494.4
p.R247H
c.740G>A
1 paper
NM_152494.4
p.A199V
c.596C>T
1 paper
NM_152494.4
p.R260S
c.778C>A
1 paper
NM_152494.4
p.R260C
c.778C>T
1 paper
NM_152494.4
p.R261C
c.781C>T
1 paper
NM_152494.4
p.W262S
c.785G>C
1 paper
NM_152494.4
p.M271I
c.813G>A
1 paper
NM_152494.4
p.M271I
c.813G>C
1 paper
NM_152494.4
p.M271I
c.813G>T
1 paper
NM_152494.4
p.F292L
c.876C>A
1 paper
NM_152494.4
p.I295V
c.883A>G
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