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.P1512L

c.4535C>T

Surrounding Variants

6 papers

NM_000350.3

p.P1512R

c.4535C>G

3 papers

NM_000350.3

p.P1512H

c.4535C>A

3 papers

NM_000350.3

p.E1504_P1512delFs

c.4510_4535del26

26 papers

NM_000350.3

p.Q1513fs

c.4537_4538fs

2 papers

NM_000350.3

p.Q1513*

c.4537C>T

2 papers

NM_000350.3

p.Q1513E

c.4537C>G

1 paper

NM_000350.3

p.Q1513K

c.4537C>A

1 paper

NM_000350.3

p.P1512_Q1513delins

c.4535_4537delinsAAA

1 paper

NM_000350.3

p.L1509_P1512delFs

c.4526_4536del11

1 paper

NM_000350.3

p.P1511L

c.4532C>T

8 papers

NM_000350.3

p.P1511R

c.4532C>G

7 papers

NM_000350.3

p.P1511H

c.4532C>A