Varaico: Literature-Extracted Genetic Variants

Gene:GOLT1A
Variant:p.L52V

GOLT1A

15 papers

Pfam Domains

Got1aa 10–116UCSCGot1/Sft2-like family

Gene Aliases

HGNC Name

golgi transport 1A

HGNC Alias Symbols

FLJ42654; CGI-141; YMR292W; MGC62027

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198447.2
p.L52V
c.154C>G
Surrounding Variants
1 paper
NM_198447.2
p.L52L
c.156G>C
1 paper
NM_198447.2
p.W57*
c.170G>A
1 paper
NM_198447.2
p.W57*
c.171G>A
1 paper
NM_198447.2
p.W82*
c.245G>A
1 paper
NM_198447.2
p.W82*
c.246G>A
1 paper
NM_198447.2
p.P83H
c.248C>A
1 paper
NM_198447.2
p.G93R
c.277G>C
1 paper
NM_198447.2
p.G93R
c.277G>A
1 paper
NM_198447.2
p.K99Splc
c.296+38A>G
1 paper
NM_198447.2
p.Y29S
c.86A>C
1 paper
NM_198447.2
p.G18D
c.53G>A
1 paper
NM_198447.2
p.F17F
c.51C>T
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