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

7 papers

NM_000350.3

p.L2229P

c.6686T>C

Surrounding Variants

1 paper

NM_000350.3

p.L2230F

c.6688C>T

1 paper

NM_000350.3

p.L2230fs

c.6688_6689fs

2 papers

NM_000350.3

p.L2230delFs

c.6688delG

1 paper

NM_000350.3

p.L2230delFs

c.6689delA

2 papers

NM_000350.3

p.I2231fs

c.6691_6692fs

1 paper

NM_000350.3

p.I2231I

c.6693C>T

2 papers

NM_000350.3

p.E2232*

c.6694G>T

4 papers

NM_000350.3

p.E2232K

c.6694G>A

3 papers

NM_000350.3

p.I2231delFs

c.6693delG

1 paper

NM_000350.3

p.E2233K

c.6697G>A

3 papers

NM_000350.3

p.E2233V

c.6698A>T

2 papers

NM_000350.3

p.E2233del1

c.6697_6698delCTC