Varaico: Literature-Extracted Genetic Variants

Gene:TGOLN2
Variant:p.K313R

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.K313R
c.938A>G
Surrounding Variants
1 paper
NM_006464.4
p.S315*
c.944C>G
1 paper
NM_006464.4
p.S315*
c.944C>A
1 paper
NM_006464.4
p.P317insFs
c.950dupC
1 paper
NM_006464.4
p.E322G
c.965A>G
1 paper
NM_006464.4
p.T331R
c.992C>G
1 paper
NM_006464.4
p.K286_L289delFs
c.857_866del10
1 paper
NM_006464.4
p.K288delFs
c.862delT
1 paper
NM_006464.4
p.A284V
c.851C>T
1 paper
NM_006464.4
p.S347A
c.1039T>G
1 paper
NM_006464.4
p.A350V
c.1049C>T
1 paper
NM_006464.4
p.P276R
c.827C>G
1 paper
NM_006464.4
p.E353D
c.1059G>T
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