Varaico: Literature-Extracted Genetic Variants

ABCG4

101 papers

RefSeq Summary

The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes a...

Pfam Domains

ABC_tranaa 85–229UCSCABC transporter

ABC2_membrane_7aa 258–322UCSCABC-2 type transporter

ABC2_membraneaa 372–583UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 4

HGNC Alias Symbol

WHITE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022169.5

p.A417S

c.1249G>T

Surrounding Variants

1 paper

NM_022169.5

p.A417D

c.1250C>A

1 paper

NM_022169.5

p.G407S

c.1219G>A

1 paper

NM_022169.5

p.A437T

c.1309G>A

1 paper

NM_022169.5

p.A438D

c.1313C>A

1 paper

NM_022169.5

p.L439L

c.1317C>G

1 paper

NM_022169.5

p.T442I

c.1325C>T

1 paper

NM_022169.5

p.W461L

c.1382G>T

1 paper

NM_022169.5

p.Q479*

c.1435C>T

1 paper

NM_022169.5

p.I376V

c.1126A>G

1 paper

NM_022169.5

p.E357K

c.1069G>A

2 papers

NM_022169.5

p.T494M

c.1481C>T

1 paper

NM_022169.5

p.V347I

c.1039G>A