Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L1448V

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.L1448V
c.4342C>G
Surrounding Variants
1 paper
NM_152701.5
p.P1447R
c.4340C>G
1 paper
NM_152701.5
p.N1452D
c.4354A>G
1 paper
NM_152701.5
p.N1460S
c.4379A>G
1 paper
NM_152701.5
p.L1435delFs
c.4304_4305delTA
2 papers
NM_152701.5
p.I1434V
c.4300A>G
1 paper
NM_152701.5
p.T1467I
c.4400C>T
1 paper
NM_152701.5
p.D1468G
c.4403A>G
1 paper
NM_152701.5
p.V1473L
c.4417G>T
1 paper
NM_152701.5
p.H1416R
c.4247A>G
1 paper
NM_152701.5
p.E1487*
c.4459G>T
1 paper
NM_152701.5
p.N1402K
c.4206C>A
1 paper
NM_152701.5
p.N1402K
c.4206C>G
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