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.V347I

c.1039G>A

Surrounding Variants

1 paper

NM_022169.5

p.N345K

c.1035C>A

1 paper

NM_022169.5

p.N345K

c.1035C>G

1 paper

NM_022169.5

p.E343K

c.1027G>A

1 paper

NM_022169.5

p.S341R

c.1023C>A

1 paper

NM_022169.5

p.S341R

c.1023C>G

1 paper

NM_022169.5

p.S341R

c.1021A>C

1 paper

NM_022169.5

p.S340del1

c.1018_1019delAGC

1 paper

NM_022169.5

p.A306G

c.917C>G

1 paper

NM_022169.5

p.G296R

c.886G>C

1 paper

NM_022169.5

p.V285A

c.854T>C

1 paper

NM_022169.5

p.V285L

c.853G>C

1 paper

NM_022169.5

p.I273N

c.818T>A