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

1–12 of 207 variants

7 papers

NM_001377321.1

p.R1322*

c.3964C>T

6 papers

NM_001377321.1

p.L1504delFs

c.4510_4511delAG

5 papers

NM_001377321.1

p.M916T

c.2747T>C

3 papers

NM_001377321.1

p.P203S

c.607C>T

3 papers

NM_001377321.1

p.Y261*

c.783T>G

3 papers

NM_001377321.1

p.Y261*

c.783T>A

3 papers

NM_001377321.1

p.L443_S444delFs

c.1328_1331del4

3 papers

NM_001377321.1

p.R754*

c.2260C>T

2 papers

NM_001377321.1

p.A5V

c.14C>T

2 papers

NM_001377321.1

p.I148delFs

c.443_444delTA

2 papers

NM_001377321.1

p.L260S

c.779T>C

2 papers

NM_001377321.1

p.I287V

c.859A>G