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

5 papers

NM_000350.3

p.F1015I

c.3043T>A

Surrounding Variants

4 papers

NM_000350.3

p.F1015L

c.3043T>C

11 papers

NM_000350.3

p.L1014R

c.3041T>G

1 paper

NM_000350.3

p.L1014Q

c.3041T>A

5 papers

NM_000350.3

p.F1015L

c.3045C>G

4 papers

NM_000350.3

p.F1015L

c.3045C>A

1 paper

NM_000350.3

p.F1015delFs

c.3045delG

3 papers

NM_000350.3

p.N1012_I1013del1

c.3035_3037delTGT

2 papers

NM_000350.3

p.H1017fs

c.3049_3050fs

1 paper

NM_000350.3

p.H1017Splc

c.3050+1G>T

7 papers

NM_000350.3

p.H1017Splc

c.3050+1G>C

4 papers

NM_000350.3

p.H1017Splc

c.3050+1G>A

1 paper

NM_000350.3

p.N1012I

c.3035A>T