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

2 papers

NM_019112.4

p.R1489Q

c.4466G>A

Surrounding Variants

5 papers

NM_019112.4

p.R1489*

c.4465C>T

2 papers

NM_019112.4

p.V1487G

c.4460T>G

1 paper

NM_019112.4

p.A1485T

c.4453G>A

1 paper

NM_019112.4

p.S1482Y

c.4445C>A

1 paper

NM_019112.4

p.R1496H

c.4487G>A

1 paper

NM_019112.4

p.R1496P

c.4487G>C

1 paper

NM_019112.4

p.P1503L

c.4508C>T

1 paper

NM_019112.4

p.A1504_H1506del3

c.4510_4517del9

1 paper

NM_019112.4

p.R1505H

c.4514G>A

1 paper

NM_019112.4

p.H1506R

c.4517A>G

4 papers

NM_019112.4

p.A1507T

c.4519G>A

1 paper

NM_019112.4

p.H1515Q

c.4545C>A