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.K108M

c.323A>T

Surrounding Variants

2 papers

NM_022169.5

p.M112V

c.334A>G

1 paper

NM_022169.5

p.I100V

c.298A>G

1 paper

NM_022169.5

p.R94S

c.280C>A

1 paper

NM_022169.5

p.K86M

c.257A>T

1 paper

NM_022169.5

p.K86*

c.256A>T

1 paper

NM_022169.5

p.E120E

c.360G>A

2 papers

NM_022169.5

p.Q126*

c.376C>T

1 paper

NM_022169.5

p.P154L

c.461C>T

1 paper

NM_022169.5

p.H155D

c.463C>G

1 paper

NM_022169.5

p.L156I

c.466C>A

1 paper

NM_022169.5

p.V176M

c.526G>A

1 paper

NM_022169.5

p.T196M

c.587C>T