Varaico: Literature-Extracted Genetic Variants

Gene:DCST1
Variant:p.G509A

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.G509A
c.1526G>C
Surrounding Variants
1 paper
NM_152494.4
p.D510fs
c.1528_1529fs
8 papers
NM_152494.4
p.M512L
c.1534A>C
8 papers
NM_152494.4
p.M512L
c.1534A>T
1 paper
NM_152494.4
p.R515Q
c.1544G>A
1 paper
NM_152494.4
p.R518Q
c.1553G>A
1 paper
NM_152494.4
p.A555S
c.1663G>T
1 paper
NM_152494.4
p.L574P
c.1721T>C
4 papers
NM_152494.4
p.I487L
c.1459A>C
1 paper
NM_152494.4
p.T486I
c.1457C>T
1 paper
NM_152494.4
p.L470V
c.1408C>G
1 paper
NM_152494.4
p.L470del1
c.1408_1410delCTG
1 paper
NM_152494.4
p.R590W
c.1768C>T
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