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

1–12 of 74 variants

3 papers

NM_022169.5

p.P15L

c.44C>T

2 papers

NM_022169.5

p.M112V

c.334A>G

2 papers

NM_022169.5

p.Q126*

c.376C>T

2 papers

NM_022169.5

p.T494M

c.1481C>T

1 paper

NM_022169.5

p.A8D

c.23C>A

1 paper

NM_022169.5

p.V9insFs

c.26_27insC

1 paper

NM_022169.5

p.G12R

c.34G>A

1 paper

NM_022169.5

p.E62K

c.184G>A

1 paper

NM_022169.5

p.E62Q

c.184G>C

1 paper

NM_022169.5

p.V64M

c.190G>A

1 paper

NM_022169.5

p.V70E

c.209T>A

1 paper

NM_022169.5

p.R71Q

c.212G>A