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

12 papers

NM_019112.4

p.L1403delFs

c.4208delT

Surrounding Variants

16 papers

NM_019112.4

p.L1403fs

c.4207_4208fs

5 papers

NM_019112.4

p.L1403fs

c.4207_4208fs

2 papers

NM_019112.4

p.K1404R

c.4211A>G

1 paper

NM_019112.4

p.G1402Splc

c.4206-6C>T

5 papers

NM_019112.4

p.R1413R

c.4239A>G

1 paper

NM_019112.4

p.S1418S

c.4254G>A

1 paper

NM_019112.4

p.R1422G

c.4264C>G

2 papers

NM_019112.4

p.S1428L

c.4283C>T

1 paper

NM_019112.4

p.R1434C

c.4300C>T

1 paper

NM_019112.4

p.S1435S

c.4305A>C

1 paper

NM_019112.4

p.V1436L

c.4306G>C

1 paper

NM_019112.4

p.V1436L

c.4306G>T