Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.V2479A

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.V2479A
c.7436T>C
Surrounding Variants
2 papers
NM_152701.5
p.R2484K
c.7451G>A
1 paper
NM_152701.5
p.V2491I
c.7471G>A
1 paper
NM_152701.5
p.V2491L
c.7471G>C
1 paper
NM_152701.5
p.L2492Q
c.7475T>A
2 papers
NM_152701.5
p.I2460V
c.7378A>G
1 paper
NM_152701.5
p.V2503D
c.7508T>A
1 paper
NM_152701.5
p.I2522V
c.7564A>G
4 papers
NM_152701.5
p.K2436R
c.7307A>G
1 paper
NM_152701.5
p.R2425R
c.7275A>G
1 paper
NM_152701.5
p.S2533fs
c.7597_7598fs
1 paper
NM_152701.5
p.S2533delFs
c.7598delC
1 paper
NM_152701.5
p.S2537A
c.7609T>G
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