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.P828R

c.2483C>G

Surrounding Variants

6 papers

NM_000350.3

p.P828L

c.2483C>T

1 paper

NM_000350.3

p.S827_P828Fs

c.2481_2483delinsCTFs

4 papers

NM_000350.3

p.S827delFs

c.2481delA

2 papers

NM_000350.3

p.T829fs

c.2485_2486fs

1 paper

NM_000350.3

p.S827N

c.2480G>A

1 paper

NM_000350.3

p.I824_N826del0

c.2470_2478del9

12 papers

NM_000350.3

p.T829M

c.2486C>T

1 paper

NM_000350.3

p.N826_P828del3

c.2476_2483del9

1 paper

NM_000350.3

p.T829T

c.2487G>A

2 papers

NM_000350.3

p.L819_N826del8

c.2455_2477del24

2 papers

NM_000350.3

p.E830*

c.2488G>T

3 papers

NM_000350.3

p.G825R

c.2473G>C