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.M280L

c.838A>T

Surrounding Variants

1 paper

NM_000350.3

p.M280fs

c.838_839fs

3 papers

NM_000350.3

p.M280L

c.838A>C

1 paper

NM_000350.3

p.D279fs

c.835_836fs

1 paper

NM_000350.3

p.M280R

c.839T>G

3 papers

NM_000350.3

p.M280T

c.839T>C

1 paper

NM_000350.3

p.M280delFs

c.838_839delAT

1 paper

NM_000350.3

p.D279_M280del2

c.835_839del6

4 papers

NM_000350.3

p.D279fs

c.835_836fs

14 papers

NM_000350.3

p.S278delFs

c.834delA

2 papers

NM_000350.3

p.S278fs

c.832_833fs

1 paper

NM_000350.3

p.S278F

c.833C>T

2 papers

NM_000350.3

p.S278C

c.833C>G