Varaico: Literature-Extracted Genetic Variants

Gene:TVP23A
Variant:p.H38Y

TVP23A

20 papers

RefSeq Summary

This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans...

Pfam Domains

DUF846aa 30–171UCSCEukaryotic protein of unknown function (DUF846)

Gene Aliases

HGNC Name

trans-golgi network vesicle protein 23 homolog A

HGNC Previous Symbol

FAM18A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079512.4
p.H38Y
c.112C>T
Surrounding Variants
1 paper
NM_001079512.4
p.S51N
c.152G>A
1 paper
NM_001079512.4
p.K57N
c.171G>T
1 paper
NM_001079512.4
p.K57N
c.171G>C
1 paper
NM_001079512.4
p.V60M
c.178G>A
1 paper
NM_001079512.4
p.G82R
c.244G>C
1 paper
NM_001079512.4
p.G82R
c.244G>A
1 paper
NM_001079512.4
p.P111L
c.332C>T
1 paper
NM_001079512.4
p.M133I
c.399G>T
1 paper
NM_001079512.4
p.M133I
c.399G>C
1 paper
NM_001079512.4
p.M133I
c.399G>A
1 paper
NM_001079512.4
p.F138fs
c.412_413fs
1 paper
NM_001079512.4
p.F140fs
c.418_419fs
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