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.A758V

c.2273C>T

Surrounding Variants

12 papers

NM_000350.3

p.S759I

c.2276G>T

1 paper

NM_000350.3

p.S759T

c.2276G>C

1 paper

NM_000350.3

p.L760L

c.2278C>T

1 paper

NM_000350.3

p.L760V

c.2278C>G

1 paper

NM_000350.3

p.L760R

c.2279T>G

5 papers

NM_000350.3

p.S756F

c.2267C>T

1 paper

NM_000350.3

p.F755del1

c.2263_2264delGAA

1 paper

NM_000350.3

p.F754_F755del2

c.2260_2264del6

3 papers

NM_000350.3

p.F755L

c.2265C>G

3 papers

NM_000350.3

p.F755L

c.2265C>A

3 papers

NM_000350.3

p.F755S

c.2264T>C

2 papers

NM_000350.3

p.A761V

c.2282C>T