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.L702_D703insATC

c.2104_2108ins9

Surrounding Variants

1 paper

NM_000350.3

p.L702L

c.2104C>T

3 papers

NM_000350.3

p.L702P

c.2105T>C

2 papers

NM_000350.3

p.W697_T699del3

c.2089_2096del9

1 paper

NM_000350.3

p.F701_L702insATC

c.2101_2105ins9

1 paper

NM_000350.3

p.D703fs

c.2107_2108fs

17 papers

NM_000350.3

p.W700*

c.2100G>A

3 papers

NM_000350.3

p.D703G

c.2108A>G

2 papers

NM_000350.3

p.W700L

c.2099G>T

19 papers

NM_000350.3

p.W700*

c.2099G>A

1 paper

NM_000350.3

p.W700R

c.2098T>C

1 paper

NM_000350.3

p.W700R

c.2098T>A

1 paper

NM_000350.3

p.D703delFs

c.2109delG