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.H922R

c.2765A>G

Surrounding Variants

1 paper

NM_000350.3

p.H922fs

c.2764_2765fs

5 papers

NM_000350.3

p.P923fs

c.2767_2768fs

1 paper

NM_000350.3

p.E921fs

c.2761_2762fs

6 papers

NM_000350.3

p.P923delFs

c.2768delG

1 paper

NM_000350.3

p.R920L

c.2759G>T

2 papers

NM_000350.3

p.R920H

c.2759G>A

1 paper

NM_000350.3

p.R920C

c.2758C>T

1 paper

NM_000350.3

p.W925G

c.2773T>G

2 papers

NM_000350.3

p.E919D

c.2757A>T

2 papers

NM_000350.3

p.E919D

c.2757A>C

5 papers

NM_000350.3

p.W925*

c.2774G>A

4 papers

NM_000350.3

p.W925*

c.2775G>A