Varaico: Literature-Extracted Genetic Variants

Gene:ALG10B
Variant:p.L253W

ALG10B

67 papers

Pfam Domains

DIE2_ALG10aa 31–126UCSCDIE2/ALG10 family

Gene Aliases

HGNC Name

ALG10 alpha-1,2-glucosyltransferase B

HGNC Alias Symbol

KCR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001013620.4
p.L253W
c.758T>G
Surrounding Variants
1 paper
NM_001013620.4
p.C265Y
c.794G>A
1 paper
NM_001013620.4
p.F267_V269del3
c.799_806del9
1 paper
NM_001013620.4
p.L220F
c.658C>T
1 paper
NM_001013620.4
p.D218N
c.652G>A
1 paper
NM_001013620.4
p.E217K
c.649G>A
1 paper
NM_001013620.4
p.L205I
c.613T>A
1 paper
NM_001013620.4
p.L205V
c.613T>G
1 paper
NM_001013620.4
p.S302fs
c.904_905fs
1 paper
NM_001013620.4
p.G198R
c.592G>A
1 paper
NM_001013620.4
p.G198R
c.592G>C
1 paper
NM_001013620.4
p.K311T
c.932A>C
1 paper
NM_001013620.4
p.F315Y
c.944T>A
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