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

2 papers

NM_019112.4

p.S1138R

c.3414C>G

Surrounding Variants

2 papers

NM_019112.4

p.S1138R

c.3414C>A

2 papers

NM_019112.4

p.S1138R

c.3412A>C

6 papers

NM_019112.4

p.L1139L

c.3417C>G

1 paper

NM_019112.4

p.S1135F

c.3404C>T

2 papers

NM_019112.4

p.G1133R

c.3397G>A

2 papers

NM_019112.4

p.G1133R

c.3397G>C

1 paper

NM_019112.4

p.E1126K

c.3376G>A

1 paper

NM_019112.4

p.A1125V

c.3374C>T

3 papers

NM_019112.4

p.R1118*

c.3352C>T

1 paper

NM_019112.4

p.F1117Y

c.3350T>A

1 paper

NM_019112.4

p.A1108S

c.3322G>T

1 paper

NM_019112.4

p.V1092G

c.3275T>G