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.V201L

c.601G>C

Surrounding Variants

1 paper

NM_019112.4

p.V201L

c.601G>T

1 paper

NM_019112.4

p.L197P

c.590T>C

1 paper

NM_019112.4

p.L197L

c.589C>T

1 paper

NM_019112.4

p.A205G

c.614C>G

1 paper

NM_019112.4

p.R211*

c.631C>T

1 paper

NM_019112.4

p.T213S

c.637A>T

1 paper

NM_019112.4

p.T213S

c.638C>G

22 papers

NM_019112.4

p.G215S

c.643G>A

1 paper

NM_019112.4

p.E222D

c.666G>C

1 paper

NM_019112.4

p.S226C

c.676A>T

1 paper

NM_019112.4

p.V227I

c.679G>A

1 paper

NM_019112.4

p.R228W

c.682A>T