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.R2030G

c.6088C>G

Surrounding Variants

79 papers

NM_000350.3

p.R2030*

c.6088C>T

115 papers

NM_000350.3

p.R2030Q

c.6089G>A

4 papers

NM_000350.3

p.G2029V

c.6086G>T

1 paper

NM_000350.3

p.G2029R

c.6085G>C

1 paper

NM_000350.3

p.G2029R

c.6085G>A

3 papers

NM_000350.3

p.T2028I

c.6083C>T

2 papers

NM_000350.3

p.H2032Y

c.6094C>T

2 papers

NM_000350.3

p.T2028A

c.6082A>G

7 papers

NM_000350.3

p.H2032R

c.6095A>G

1 paper

NM_000350.3

p.L2027P

c.6080T>C

1 paper

NM_000350.3

p.Q2019_E2031del13

c.6055_6092del39

138 papers

NM_000350.3

p.L2027F

c.6079C>T