Varaico: Literature-Extracted Genetic Variants

Gene:DCST1
Variant:p.W39S

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.W39S
c.116G>C
Surrounding Variants
1 paper
NM_152494.4
p.R40C
c.118C>T
1 paper
NM_152494.4
p.A54T
c.160G>A
1 paper
NM_152494.4
p.G55D
c.164G>A
1 paper
NM_152494.4
p.L59fs
c.175_176fs
1 paper
NM_152494.4
p.Y75C
c.224A>G
1 paper
NM_152494.4
p.Y75F
c.224A>T
1 paper
NM_152494.4
p.P18L
c.53C>T
1 paper
NM_152494.4
p.G116C
c.346G>T
1 paper
NM_152494.4
p.R117fs
c.349_350fs
1 paper
NM_152494.4
p.P132L
c.395C>T
1 paper
NM_152494.4
p.R137*
c.409C>T
1 paper
NM_152494.4
p.V151M
c.451G>A
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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."