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

19 papers

NM_019112.4

p.R1349Q

c.4046G>A

Surrounding Variants

1 paper

NM_019112.4

p.R1349W

c.4045C>T

1 paper

NM_019112.4

p.C1345R

c.4033T>C

1 paper

NM_019112.4

p.R1354H

c.4061G>A

1 paper

NM_019112.4

p.A1344S

c.4030G>T

1 paper

NM_019112.4

p.P1357S

c.4069C>T

1 paper

NM_019112.4

p.P1360R

c.4079C>G

2 papers

NM_019112.4

p.T1337I

c.4010C>T

7 papers

NM_019112.4

p.W1336*

c.4008G>A

7 papers

NM_019112.4

p.W1336*

c.4007G>A

1 paper

NM_019112.4

p.W1336R

c.4006T>C

1 paper

NM_019112.4

p.S1333_P1341del9

c.3997_4022del27

2 papers

NM_019112.4

p.A1328D

c.3983C>A