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.E167G

c.500A>G

Surrounding Variants

2 papers

NM_019112.4

p.E167K

c.499G>A

1 paper

NM_019112.4

p.L169M

c.505C>A

1 paper

NM_019112.4

p.G170G

c.510G>C

1 paper

NM_019112.4

p.L173R

c.518T>G

1 paper

NM_019112.4

p.L173L

c.519G>T

1 paper

NM_019112.4

p.L180*

c.539T>A

1 paper

NM_019112.4

p.H181Y

c.541C>T

1 paper

NM_019112.4

p.S182N

c.545G>A

1 paper

NM_019112.4

p.L184S

c.551T>C

1 paper

NM_019112.4

p.A186_A187insFs

c.558_559insC

26 papers

NM_019112.4

p.E188G

c.563A>G

1 paper

NM_019112.4

p.L190M

c.568C>A