Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L1212F

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.L1212F
c.3636G>T
Surrounding Variants
1 paper
NM_152701.5
p.L1212F
c.3636G>C
2 papers
NM_152701.5
p.V1216I
c.3646G>A
1 paper
NM_152701.5
p.A1206S
c.3616G>T
1 paper
NM_152701.5
p.D1221Y
c.3661G>T
1 paper
NM_152701.5
p.F1228L
c.3682T>C
1 paper
NM_152701.5
p.F1228L
c.3684C>A
1 paper
NM_152701.5
p.F1228L
c.3684C>G
1 paper
NM_152701.5
p.D1233G
c.3698A>G
1 paper
NM_152701.5
p.V1190M
c.3568G>A
2 papers
NM_152701.5
p.N1240Y
c.3718A>T
1 paper
NM_152701.5
p.G1178G
c.3534T>C
1 paper
NM_152701.5
p.L1248del1
c.3742_3743delCTT
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