Varaico: Literature-Extracted Genetic Variants

ABCB6

239 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of t...

Pfam Domains

MTABC_Naa 6–255UCSCMitochondrial ABC-transporter N-terminal five TM region

ABC_membraneaa 265–544UCSCABC transporter transmembrane region

ABC_tranaa 606–755UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 6

HGNC Alias Symbols

EST45597; umat; MTABC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005689.4

p.L515P

c.1544T>C

Surrounding Variants

5 papers

NM_005689.4

p.A511_L515insFs

c.1533_1543dup11

3 papers

NM_005689.4

p.L515fs

c.1543_1544fs

1 paper

NM_005689.4

p.L515fs

c.1543_1544fs

1 paper

NM_005689.4

p.C516F

c.1547G>T

2 papers

NM_001349828.2

p.A471T

c.1411G>A

NM_005689.4

p.A517T

c.1549G>A

1 paper

NM_001349828.2

p.S467Y

c.1400C>A

1 paper

NM_005689.4

p.S513P

c.1537T>C

1 paper

NM_001349828.2

p.S467T

c.1399T>A

4 papers

NM_001349828.2

p.G466S

c.1396G>A

NM_005689.4

p.G512S

c.1534G>A

1 paper

NM_001349828.2

p.F473L

c.1417T>C

1 paper

NM_005689.4

p.F519S

c.1556T>C

1 paper

NM_001349828.2

p.F473L

c.1419T>G