Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.S2610*

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.S2610*
c.7829C>A
Surrounding Variants
1 paper
NM_152701.5
p.S2610*
c.7829C>G
2 papers
NM_152701.5
p.I2608R
c.7823T>G
2 papers
NM_152701.5
p.I2608V
c.7822A>G
1 paper
NM_152701.5
p.P2606H
c.7817C>A
1 paper
NM_152701.5
p.S2620N
c.7859G>A
1 paper
NM_152701.5
p.L2590F
c.7770G>C
1 paper
NM_152701.5
p.L2590F
c.7770G>T
1 paper
NM_152701.5
p.A2639P
c.7915G>C
1 paper
NM_152701.5
p.H2581P
c.7742A>C
1 paper
NM_152701.5
p.E2640K
c.7918G>A
1 paper
NM_152701.5
p.I2579fs
c.7735_7736fs
1 paper
NM_152701.5
p.K2577N
c.7731A>C
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