Varaico: Literature-Extracted Genetic Variants

Gene:TGOLN2
Variant:p.S41C

TGOLN2

143 papers

RefSeq Summary

This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early...

Pfam Domains

KCT2aa 235–442UCSCKeratinocyte-associated gene product

Gene Aliases

HGNC Name

trans-golgi network protein 2

HGNC Alias Symbols

TGN51; TGN46; TGN48; TGN38; TTGN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006464.4
p.S41C
c.122C>G
Surrounding Variants
1 paper
NM_006464.4
p.S41A
c.121T>G
1 paper
NM_006464.4
p.P44L
c.131C>T
1 paper
NM_006464.4
p.A37P
c.109G>C
1 paper
NM_006464.4
p.A37T
c.109G>A
1 paper
NM_006464.4
p.S47T
c.140G>C
1 paper
NM_006464.4
p.R34_P35insFs
c.102_103insA
1 paper
NM_006464.4
p.Q28E
c.82C>G
1 paper
NM_006464.4
p.H57Y
c.169C>T
2 papers
NM_006464.4
p.S25N
c.74G>A
1 paper
NM_006464.4
p.Q61K
c.181C>A
1 paper
NM_006464.4
p.P19L
c.56C>T
1 paper
NM_006464.4
p.P19A
c.55C>G
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