Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.Q990fs

ABCA13

366 papers

RefSeq Summary

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA ...

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 13

HGNC Alias Symbols

FLJ33876; FLJ33951

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152701.5
p.Q990fs
c.2968_2969fs
Surrounding Variants
1 paper
NM_152701.5
p.Q990delFs
c.2969delA
1 paper
NM_152701.5
p.T989S
c.2965A>T
1 paper
NM_152701.5
p.S984S
c.2952G>A
1 paper
NM_152701.5
p.Q979H
c.2937G>C
1 paper
NM_152701.5
p.Q979H
c.2937G>T
1 paper
NM_152701.5
p.F1002Y
c.3005T>A
1 paper
NM_152701.5
p.L976L
c.2926T>C
1 paper
NM_152701.5
p.N1006Y
c.3016A>T
1 paper
NM_152701.5
p.Y971F
c.2912A>T
1 paper
NM_152701.5
p.Y971H
c.2911T>C
1 paper
NM_152701.5
p.A959T
c.2875G>A
1 paper
NM_152701.5
p.S958A
c.2872T>G
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