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

2 papers

NM_000350.3

p.L2033H

c.6098T>A

Surrounding Variants

12 papers

NM_000350.3

p.L2033R

c.6098T>G

5 papers

NM_000350.3

p.L2033P

c.6098T>C

2 papers

NM_000350.3

p.L2033F

c.6097C>T

1 paper

NM_000350.3

p.Q2019_E2031del13

c.6055_6092del39

2 papers

NM_000350.3

p.Y2034fs

c.6100_6101fs

7 papers

NM_000350.3

p.H2032R

c.6095A>G

2 papers

NM_000350.3

p.Y2034delFs

c.6100delA

2 papers

NM_000350.3

p.H2032Y

c.6094C>T

6 papers

NM_000350.3

p.L2035P

c.6104T>C

2 papers

NM_000350.3

p.H2032_Y2034del3

c.6094_6101del9

1 paper

NM_000350.3

p.Y2036fs

c.6106_6107fs

115 papers

NM_000350.3

p.R2030Q

c.6089G>A