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

1 paper

NM_000350.3

p.L1661R

c.4982T>G

Surrounding Variants

6 papers

NM_000350.3

p.P1660delFs

c.4978delG

1 paper

NM_000350.3

p.L1661fs

c.4981_4982fs

1 paper

NM_000350.3

p.L1661L

c.4981C>T

1 paper

NM_000350.3

p.N1662D

c.4984A>G

7 papers

NM_000350.3

p.P1660L

c.4979C>T

1 paper

NM_000350.3

p.P1660H

c.4979C>A

11 papers

NM_000350.3

p.P1660S

c.4978C>T

2 papers

NM_000350.3

p.S1648_Q1659del12

c.4942_4976del36

1 paper

NM_000350.3

p.Q1659H

c.4977A>T

1 paper

NM_000350.3

p.Q1659H

c.4977A>C

1 paper

NM_000350.3

p.Q1659K

c.4975C>A

1 paper

NM_000350.3

p.R1647_S1658del12

c.4939_4973del36