Varaico: Literature-Extracted Genetic Variants

Gene:TGOLN2
Variant:p.D200E

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
4 papers
NM_006464.4
p.D200E
c.600T>A
Surrounding Variants
4 papers
NM_006464.4
p.D200E
c.600T>G
1 paper
NM_006464.4
p.D200A
c.599A>C
1 paper
NM_006464.4
p.S196S
c.588G>T
1 paper
NM_006464.4
p.S196S
c.588G>A
1 paper
NM_006464.4
p.V206V
c.618C>G
1 paper
NM_006464.4
p.P207H
c.620C>A
1 paper
NM_006464.4
p.S193Y
c.578C>A
1 paper
NM_006464.4
p.G186V
c.557G>T
1 paper
NM_006464.4
p.N180N
c.540T>C
1 paper
NM_006464.4
p.N180T
c.539A>C
1 paper
NM_006464.4
p.S221F
c.662C>T
1 paper
NM_006464.4
p.N222D
c.664A>G
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