Varaico: Literature-Extracted Genetic Variants

ABCG5

506 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_tranaa 69–221UCSCABC transporter

ABC2_membrane_7aa 250–350UCSCABC-2 type transporter

ABC2_membraneaa 366–580UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 5

HGNC Alias Symbol

STSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022436.3

p.R253C

c.757C>T

Surrounding Variants

2 papers

NM_022436.3

p.R253H

c.758G>A

1 paper

NM_022436.3

p.S254P

c.760T>C

2 papers

NM_022436.3

p.S254S

c.762T>C

1 paper

NM_022436.3

p.E255*

c.763G>T

23 papers

NM_022436.3

p.Q251*

c.751C>T

1 paper

NM_022436.3

p.Q251E

c.751C>G

1 paper

NM_022436.3

p.Q251K

c.751C>A

2 papers

NM_022436.3

p.H250Y

c.748C>T

1 paper

NM_022436.3

p.L256P

c.767T>C

1 paper

NM_022436.3

p.T248S

c.743C>G

1 paper

NM_022436.3

p.T248S

c.742A>T

2 papers

NM_022436.3

p.V245M

c.733G>A