Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.I1024F

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.I1024F
c.3070A>T
Surrounding Variants
1 paper
NM_152701.5
p.G1023E
c.3068G>A
1 paper
NM_152701.5
p.N1026K
c.3078T>A
1 paper
NM_152701.5
p.N1026K
c.3078T>G
1 paper
NM_152701.5
p.N1006Y
c.3016A>T
1 paper
NM_152701.5
p.F1002Y
c.3005T>A
1 paper
NM_152701.5
p.S1049Y
c.3146C>A
1 paper
NM_152701.5
p.V1057L
c.3169G>C
1 paper
NM_152701.5
p.V1057_I1058ins4
c.3169_3173ins12
1 paper
NM_152701.5
p.V1057L
c.3169G>T
1 paper
NM_152701.5
p.Q990fs
c.2968_2969fs
1 paper
NM_152701.5
p.Q990delFs
c.2969delA
1 paper
NM_152701.5
p.T989S
c.2965A>T
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