Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.W838*

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.W838*
c.2514G>A
Surrounding Variants
1 paper
NM_152701.5
p.W838*
c.2513G>A
1 paper
NM_152701.5
p.L835I
c.2503C>A
1 paper
NM_152701.5
p.P832R
c.2495C>G
2 papers
NM_152701.5
p.R847I
c.2540G>T
1 paper
NM_152701.5
p.L827_L834delFs
c.2480_2501del22
1 paper
NM_152701.5
p.L825delFs
c.2475delA
1 paper
NM_152701.5
p.L825fs
c.2473_2474fs
1 paper
NM_152701.5
p.P816Q
c.2447C>A
1 paper
NM_152701.5
p.E815D
c.2445A>C
1 paper
NM_152701.5
p.G808R
c.2422G>A
1 paper
NM_152701.5
p.G808R
c.2422G>C
1 paper
NM_152701.5
p.S870N
c.2609G>A
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