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.M2108del1

c.6322_6323delCAT

Surrounding Variants

6 papers

NM_000350.3

p.L2109P

c.6326T>C

4 papers

NM_000350.3

p.R2107_L2109delFs

c.6319_6325del7

2 papers

NM_000350.3

p.W2110R

c.6328T>C

1 paper

NM_000350.3

p.W2110R

c.6328T>A

13 papers

NM_000350.3

p.W2110*

c.6329G>A

1 paper

NM_000350.3

p.R2107fs

c.6319_6320fs

1 paper

NM_000350.3

p.R2107delins

c.6319_6321delinsAAA

11 papers

NM_000350.3

p.R2107P

c.6320G>C

116 papers

NM_000350.3

p.R2107H

c.6320G>A

13 papers

NM_000350.3

p.W2110*

c.6330G>A

12 papers

NM_000350.3

p.R2107C

c.6319C>T

1 paper

NM_000350.3

p.R2107S

c.6319C>A