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.Y498H

c.1492T>C

Surrounding Variants

1 paper

NM_019112.4

p.L496L

c.1488G>A

1 paper

NM_019112.4

p.G502del1

c.1504_1505delGGC

1 paper

NM_019112.4

p.G502A

c.1505G>C

1 paper

NM_019112.4

p.P492T

c.1474C>A

24 papers

NM_019112.4

p.L509L

c.1527G>A

1 paper

NM_019112.4

p.L509L

c.1527G>T

2 papers

NM_019112.4

p.P486fs

c.1456_1457fs

6 papers

NM_019112.4

p.P486A

c.1456C>G

2 papers

NM_019112.4

p.E511*

c.1531G>T

3 papers

NM_019112.4

p.R512G

c.1534C>G

1 paper

NM_019112.4

p.R512H

c.1535G>A

1 paper

NM_019112.4

p.V515I

c.1543G>A