Varaico: Literature-Extracted Genetic Variants

ABCA7

427 papers

RefSeq Summary

The 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 intra-cellular membranes. ABC gen...

Pfam Domains

ABC2_membrane_3aa 543–750UCSCABC-2 family transporter protein

ABC_tranaa 824–968UCSCABC transporter

ABC2_membrane_3aa 1446–1750UCSCABC-2 family transporter protein

ABC_tranaa 1810–1954UCSCABC transporter

R1_ABCA1aa 2017–2090UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 7

HGNC Alias Symbol

ABCX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

26 papers

NM_019112.4

p.S1857Splc

c.5570+5G>C

Surrounding Variants

1 paper

NM_019112.4

p.S1857C

c.5569A>T

1 paper

NM_019112.4

p.A1854V

c.5561C>T

1 paper

NM_019112.4

p.A1851G

c.5552C>G

1 paper

NM_019112.4

p.L1845fs

c.5533_5534fs

1 paper

NM_019112.4

p.T1841M

c.5522C>T

1 paper

NM_019112.4

p.V1840M

c.5518G>A

1 paper

NM_019112.4

p.R1838H

c.5513G>A

1 paper

NM_019112.4

p.T1834A

c.5500A>G

1 paper

NM_019112.4

p.A1831S

c.5491G>T

4 papers

NM_019112.4

p.N1829N

c.5487T>C

1 paper

NM_019112.4

p.N1829S

c.5486A>G

1 paper

NM_019112.4

p.V1828M

c.5482G>A