Varaico: Literature-Extracted Genetic Variants

ABCA4

1,730 papers

RefSeq Summary

The membrane-associated 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 intracellular...

Pfam Domains

ABC2_membrane_3aa 608–856UCSCABC-2 family transporter protein

ABC_tranaa 946–1090UCSCABC transporter

ABC2_membrane_3aa 1597–1895UCSCABC-2 family transporter protein

ABC_tranaa 1955–2099UCSCABC transporter

R1_ABCA1aa 2162–2238UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 4

HGNC Previous Symbols

STGD1; ABCR; RP19; STGD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000350.3

p.M1778L

c.5332A>C

Surrounding Variants

2 papers

NM_000350.3

p.M1778fs

c.5332_5333fs

2 papers

NM_000350.3

p.M1778L

c.5332A>T

2 papers

NM_000350.3

p.M1778V

c.5332A>G

1 paper

NM_000350.3

p.M1778K

c.5333T>A

1 paper

NM_000350.3

p.M1777T

c.5330T>C

4 papers

NM_000350.3

p.Y1779H

c.5335T>C

13 papers

NM_000350.3

p.M1777L

c.5329A>T

4 papers

NM_000350.3

p.M1777V

c.5329A>G

12 papers

NM_000350.3

p.M1777L

c.5329A>C

1 paper

NM_000350.3

p.Y1779F

c.5336A>T

20 papers

NM_000350.3

p.P1776L

c.5327C>T

7 papers

NM_000350.3

p.Y1779*

c.5337C>G