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.T252S

c.755C>G

Surrounding Variants

1 paper

NM_022169.5

p.T252S

c.754A>T

1 paper

NM_022169.5

p.G250fs

c.748_749fs

1 paper

NM_022169.5

p.L242I

c.724C>A

1 paper

NM_022169.5

p.L264fs

c.790_791fs

1 paper

NM_022169.5

p.M267V

c.799A>G

1 paper

NM_022169.5

p.K270_L271Splc

c.810+2T>C

1 paper

NM_022169.5

p.I273N

c.818T>A

1 paper

NM_022169.5

p.V285L

c.853G>C

1 paper

NM_022169.5

p.V285A

c.854T>C

1 paper

NM_022169.5

p.G296R

c.886G>C

1 paper

NM_022169.5

p.A306G

c.917C>G

1 paper

NM_022169.5

p.S340del1

c.1018_1019delAGC