Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L2212S

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.L2212S
c.6635T>C
Surrounding Variants
1 paper
NM_152701.5
p.I2213T
c.6638T>C
1 paper
NM_152701.5
p.E2206K
c.6616G>A
1 paper
NM_152701.5
p.Q2221*
c.6661C>T
1 paper
NM_152701.5
p.Q2202L
c.6605A>T
1 paper
NM_152701.5
p.A2223P
c.6667G>C
1 paper
NM_152701.5
p.Q2233K
c.6697C>A
3 papers
NM_152701.5
p.A2178E
c.6533C>A
1 paper
NM_152701.5
p.S2247delFs
c.6740delC
1 paper
NM_152701.5
p.S2247*
c.6740C>A
1 paper
NM_152701.5
p.S2247*
c.6740C>G
1 paper
NM_152701.5
p.L2172delFs
c.6516delA
2 papers
NM_152701.5
p.T2264T
c.6792A>G
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