Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.F2693L

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.F2693L
c.8079C>G
Surrounding Variants
1 paper
NM_152701.5
p.F2693L
c.8079C>A
1 paper
NM_152701.5
p.F2693L
c.8077T>C
1 paper
NM_152701.5
p.S2700_I2708delFs
c.8098_8122del25
1 paper
NM_152701.5
p.S2700fs
c.8098_8099fs
1 paper
NM_152701.5
p.H2702D
c.8104C>G
1 paper
NM_152701.5
p.G2704S
c.8110G>A
1 paper
NM_152701.5
p.W2710R
c.8128T>A
1 paper
NM_152701.5
p.I2677T
c.8030T>C
1 paper
NM_152701.5
p.W2710R
c.8128T>C
1 paper
NM_152701.5
p.E2711K
c.8131G>A
4 papers
NM_152701.5
p.R2674W
c.8020C>T
1 paper
NM_152701.5
p.V2716M
c.8146G>A
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