Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.R4843L

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
2 papers
NM_152701.5
p.R4843L
c.14528G>T
Surrounding Variants
7 papers
NM_152701.5
p.R4843C
c.14527C>T
2 papers
NM_152701.5
p.I4841V
c.14521A>G
1 paper
NM_152701.5
p.L4846V
c.14536C>G
1 paper
NM_152701.5
p.E4847K
c.14539G>A
1 paper
NM_152701.5
p.G4860E
c.14579G>A
1 paper
NM_152701.5
p.R4863W
c.14587C>T
1 paper
NM_152701.5
p.V4872fs
c.14614_14615fs
1 paper
NM_152701.5
p.V4872delFs
c.14616delG
1 paper
NM_152701.5
p.K4874K
c.14622A>G
1 paper
NM_152701.5
p.P4875H
c.14624C>A
1 paper
NM_152701.5
p.L4880_D4881Splc
c.14640+5G>T
1 paper
NM_152701.5
p.E4835D
c.14505G>C
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