Varaico: Literature-Extracted Genetic Variants

ABCC11

239 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_membraneaa 163–431UCSCABC transporter transmembrane region

ABC_tranaa 527–662UCSCABC transporter

ABC_membraneaa 806–1092UCSCABC transporter transmembrane region

ABC_tranaa 1158–1306UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 11

HGNC Alias Symbol

MRP8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370497.1

p.V648F

c.1942G>T

Surrounding Variants

8 papers

NM_001370497.1

p.V648I

c.1942G>A

3 papers

NM_001370497.1

p.A647T

c.1939G>A

1 paper

NM_001370497.1

p.R646H

c.1937G>A

1 paper

NM_001370497.1

p.R646C

c.1936C>T

1 paper

NM_001370497.1

p.D651N

c.1951G>A

1 paper

NM_001370497.1

p.L644L

c.1932G>T

1 paper

NM_001370497.1

p.Q653H

c.1959G>T

1 paper

NM_001370497.1

p.Q653H

c.1959G>C

1 paper

NM_001370497.1

p.I654T

c.1961T>C

1 paper

NM_001370497.1

p.K639E

c.1915A>G

2 papers

NM_001370497.1

p.Q638fs

c.1912_1913fs

1 paper

NM_001370497.1

p.G637W

c.1909G>T