Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.K2306T

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
4 papers
NM_152701.5
p.K2306T
c.6917A>C
Surrounding Variants
1 paper
NM_152701.5
p.K2306E
c.6916A>G
1 paper
NM_152701.5
p.S2330*
c.6989C>G
1 paper
NM_152701.5
p.S2331insFs
c.6991_6992ins4
1 paper
NM_152701.5
p.S2331fs
c.6991_6992fs
1 paper
NM_152701.5
p.T2335S
c.7003A>T
1 paper
NM_152701.5
p.T2335S
c.7004C>G
1 paper
NM_152701.5
p.S2342T
c.7025G>C
1 paper
NM_152701.5
p.G2349R
c.7045G>A
1 paper
NM_152701.5
p.G2349R
c.7045G>C
1 paper
NM_152701.5
p.R2371fs
c.7111_7112fs
1 paper
NM_152701.5
p.R2371delFs
c.7112delG
1 paper
NM_152701.5
p.R2371R
c.7113G>A
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