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

3 papers

NM_001377321.1

p.R754*

c.2260C>T

Surrounding Variants

1 paper

NM_001377321.1

p.R753S

c.2259A>T

1 paper

NM_001377321.1

p.R753S

c.2259A>C

1 paper

NM_001377321.1

p.L765F

c.2295A>T

1 paper

NM_001377321.1

p.L765F

c.2295A>C

1 paper

NM_001377321.1

p.L739V

c.2215C>G

1 paper

NM_001377321.1

p.I720T

c.2159T>C

1 paper

NM_001377321.1

p.K796I

c.2387A>T

1 paper

NM_001377321.1

p.R799C

c.2395C>T

1 paper

NM_001377321.1

p.W804insFs

c.2411_2412insT

1 paper

NM_001377321.1

p.W804fs

c.2410_2411fs

1 paper

NM_001377321.1

p.Q817*

c.2449C>T

2 papers

NM_001377321.1

p.P819L

c.2456C>T