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

3 papers

NM_019112.4

p.D539E

c.1617C>A

Surrounding Variants

3 papers

NM_019112.4

p.D539E

c.1617C>G

1 paper

NM_019112.4

p.D539G

c.1616A>G

1 paper

NM_019112.4

p.D540fs

c.1618_1619fs

1 paper

NM_019112.4

p.V541M

c.1621G>A

1 paper

NM_019112.4

p.V538M

c.1612G>A

1 paper

NM_019112.4

p.V541Splc

c.1622+5G>A

1 paper

NM_019112.4

p.G526S

c.1576G>A

1 paper

NM_019112.4

p.G526R

c.1576G>C

3 papers

NM_019112.4

p.R524W

c.1570C>T

1 paper

NM_019112.4

p.P523T

c.1567C>A

1 paper

NM_019112.4

p.R516H

c.1547G>A

2 papers

NM_019112.4

p.R516P

c.1547G>C