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

5 papers

NM_000350.3

p.L2241P

c.6722T>C

Surrounding Variants

19 papers

NM_000350.3

p.L2241V

c.6721C>G

17 papers

NM_000350.3

p.T2240A

c.6718A>G

1 paper

NM_000350.3

p.Q2243*

c.6727C>T

2 papers

NM_000350.3

p.Q2238delFs

c.6714delC

2 papers

NM_000350.3

p.V2236_Q2238delFs

c.6707_6714del8

4 papers

NM_000350.3

p.Q2243_V2244Splc

c.6729+1G>A

1 paper

NM_000350.3

p.Q2243del1

c.6727_6728delCTG

3 papers

NM_000350.3

p.Q2238R

c.6713A>G

1 paper

NM_000350.3

p.Q2238fs

c.6712_6713fs

6 papers

NM_000350.3

p.Q2238*

c.6712C>T

1 paper

NM_000350.3

p.T2237insFs

c.6711dupA

1 paper

NM_000350.3

p.V2236_T2237del2

c.6706_6710del6