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.V727F

c.2179G>T

Surrounding Variants

1 paper

NM_019112.4

p.S729R

c.2185A>C

1 paper

NM_019112.4

p.S729R

c.2187C>A

1 paper

NM_019112.4

p.S729R

c.2187C>G

1 paper

NM_019112.4

p.R722Q

c.2165G>A

4 papers

NM_019112.4

p.Q732*

c.2194C>T

1 paper

NM_019112.4

p.G720V

c.2159G>T

1 paper

NM_019112.4

p.G735D

c.2204G>A

19 papers

NM_019112.4

p.N718T

c.2153A>C

1 paper

NM_019112.4

p.L737fs

c.2209_2210fs

1 paper

NM_019112.4

p.W716S

c.2147G>C

1 paper

NM_019112.4

p.Q715K

c.2143C>A

3 papers

NM_019112.4

p.E712*

c.2134G>T