Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.G808R

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.G808R
c.2422G>A
Surrounding Variants
1 paper
NM_152701.5
p.G808R
c.2422G>C
1 paper
NM_152701.5
p.T806I
c.2417C>T
1 paper
NM_152701.5
p.E815D
c.2445A>C
1 paper
NM_152701.5
p.P816Q
c.2447C>A
1 paper
NM_152701.5
p.E799A
c.2396A>C
1 paper
NM_152701.5
p.E799K
c.2395G>A
1 paper
NM_152701.5
p.L825fs
c.2473_2474fs
1 paper
NM_152701.5
p.L825delFs
c.2475delA
1 paper
NM_152701.5
p.D789A
c.2366A>C
1 paper
NM_152701.5
p.L827_L834delFs
c.2480_2501del22
1 paper
NM_152701.5
p.P785T
c.2353C>A
1 paper
NM_152701.5
p.P832R
c.2495C>G
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