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

1 paper

NM_019112.4

p.V1208M

c.3622G>A

Surrounding Variants

1 paper

NM_019112.4

p.P1205fs

c.3613_3614fs

1 paper

NM_019112.4

p.G1204fs

c.3610_3611fs

16 papers

NM_019112.4

p.W1214*

c.3641G>A

1 paper

NM_019112.4

p.Q1201R

c.3602A>G

16 papers

NM_019112.4

p.W1214*

c.3642G>A

1 paper

NM_019112.4

p.A1215T

c.3643G>A

1 paper

NM_019112.4

p.R1218G

c.3652C>G

1 paper

NM_019112.4

p.R1218H

c.3653G>A

1 paper

NM_019112.4

p.R1218L

c.3653G>T

2 papers

NM_019112.4

p.A1193Splc

c.3578-2A>C

2 papers

NM_019112.4

p.A1193Splc

c.3578-2A>G

1 paper

NM_019112.4

p.R1228C

c.3682C>T