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.T581M

c.1742C>T

Surrounding Variants

1 paper

NM_022169.5

p.T581T

c.1743G>A

1 paper

NM_022169.5

p.I579I

c.1737C>T

1 paper

NM_022169.5

p.V578M

c.1732G>A

1 paper

NM_022169.5

p.D589H

c.1765G>C

1 paper

NM_022169.5

p.R641W

c.1921C>T

1 paper

NM_022169.5

p.R572Splc

c.1715+1G>A

1 paper

NM_022169.5

p.Y570S

c.1709A>C

1 paper

NM_022169.5

p.Y567C

c.1700A>G

1 paper

NM_022169.5

p.G521R

c.1561G>A

1 paper

NM_022169.5

p.G521R

c.1561G>C

2 papers

NM_022169.5

p.T494M

c.1481C>T

1 paper

NM_022169.5

p.Q479*

c.1435C>T