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.S1116P

c.3346T>C

Surrounding Variants

3 papers

NM_000350.3

p.I1114del1

c.3340_3341delGAT

2 papers

NM_000350.3

p.S1116F

c.3347C>T

1 paper

NM_000350.3

p.T1112_S1116delFs

c.3334_3346del13

4 papers

NM_000350.3

p.M1115T

c.3344T>C

2 papers

NM_000350.3

p.M1115fs

c.3343_3344fs

6 papers

NM_000350.3

p.T1117A

c.3349A>G

4 papers

NM_000350.3

p.I1114delFs

c.3342delG

6 papers

NM_000350.3

p.T1117I

c.3350C>T

1 paper

NM_000350.3

p.I1114fs

c.3340_3341fs

1 paper

NM_000350.3

p.T1117N

c.3350C>A

9 papers

NM_000350.3

p.H1118Y

c.3352C>T

7 papers

NM_000350.3

p.H1118D

c.3352C>G