Varaico: Literature-Extracted Genetic Variants

ABCA10

143 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular...

Pfam Domains

ABC2_membrane_3aa 75–329UCSCABC-2 family transporter protein

ABC_tranaa 410–556UCSCABC transporter

ACT_13aa 621–694UCSCACT-like domain

ABC_tranaa 1222–1368UCSCABC transporter

R1_ABCA1aa 1432–1506UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 10

HGNC Alias Symbol

EST698739

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001377321.1

p.F881I

c.2641T>A

Surrounding Variants

1 paper

NM_001377321.1

p.D878Y

c.2632G>T

1 paper

NM_001377321.1

p.T911M

c.2732C>T

5 papers

NM_001377321.1

p.M916T

c.2747T>C

1 paper

NM_001377321.1

p.G833V

c.2498G>T

1 paper

NM_001377321.1

p.N830S

c.2489A>G

1 paper

NM_001377321.1

p.I828I

c.2484C>T

2 papers

NM_001377321.1

p.L823V

c.2467C>G

2 papers

NM_001377321.1

p.P819L

c.2456C>T

1 paper

NM_001377321.1

p.Q817*

c.2449C>T

1 paper

NM_001377321.1

p.W804fs

c.2410_2411fs

1 paper

NM_001377321.1

p.W804insFs

c.2411_2412insT

1 paper

NM_001377321.1

p.R799C

c.2395C>T