Varaico: Literature-Extracted Genetic Variants

ABCG2

1,459 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellula...

Pfam Domains

ABC_tranaa 64–214UCSCABC transporter

ABC2_membrane_7aa 243–319UCSCABC-2 type transporter

ABC2_membraneaa 375–586UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 2

HGNC Alias Symbols

EST157481; MXR; ABCP; CD338

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004827.3

p.N116I

c.347A>T

Surrounding Variants

1 paper

NM_004827.3

p.N116D

c.346A>G

1 paper

NM_004827.3

p.F117I

c.349T>A

1 paper

NM_004827.3

p.F117F

c.351C>T

1 paper

NM_004827.3

p.F117L

c.351C>A

1 paper

NM_004827.3

p.K118E

c.352A>G

5 papers

NM_004827.3

p.P114L

c.341C>T

1 paper

NM_004827.3

p.K118K

c.354A>G

1 paper

NM_004827.3

p.C119S

c.355T>A

1 paper

NM_004827.3

p.C119S

c.356G>C

1 paper

NM_004827.3

p.R113Q

c.338G>A

9 papers

NM_004827.3

p.R113*

c.337C>T

2 papers

NM_004827.3

p.P112L

c.335C>T