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

1–12 of 817 variants

35 papers

NM_019112.4

p.G1527A

c.4580G>C

26 papers

NM_019112.4

p.E188G

c.563A>G

26 papers

NM_019112.4

p.S1857Splc

c.5570+5G>C

24 papers

NM_019112.4

p.L509L

c.1527G>A

24 papers

NM_019112.4

p.E709fs

c.2125_2126fs

22 papers

NM_019112.4

p.G215S

c.643G>A

19 papers

NM_019112.4

p.N718T

c.2153A>C

19 papers

NM_019112.4

p.R1349Q

c.4046G>A

16 papers

NM_019112.4

p.E709_G711delFs

c.2126_2132del7

16 papers

NM_019112.4

p.W1214*

c.3641G>A

16 papers

NM_019112.4

p.W1214*

c.3642G>A

16 papers

NM_019112.4

p.L1403fs

c.4207_4208fs