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

3 papers

NM_000350.3

p.I994V

c.2980A>G

Surrounding Variants

1 paper

NM_000350.3

p.D993fs

c.2977_2978fs

1 paper

NM_000350.3

p.D993fs

c.2977_2978fs

3 papers

NM_000350.3

p.D993_E995delFs

c.2977_2984del8

1 paper

NM_000350.3

p.R992W

c.2974A>T

2 papers

NM_000350.3

p.R992R

c.2974A>C

1 paper

NM_000350.3

p.T996I

c.2987C>T

7 papers

NM_000350.3

p.G991V

c.2972G>T

1 paper

NM_000350.3

p.I994_T996delFs

c.2980_2987del8

5 papers

NM_000350.3

p.G991*

c.2971G>T

40 papers

NM_000350.3

p.G991R

c.2971G>C

37 papers

NM_000350.3

p.G991R

c.2971G>A

1 paper

NM_000350.3

p.G990fs

c.2968_2969fs