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

7 papers

NM_005689.4

p.R343Q

c.1028G>A

Surrounding Variants

2 papers

NM_005689.4

p.R343L

c.1028G>T

1 paper

NM_005689.4

p.R344W

c.1030C>T

1 paper

NM_005689.4

p.E346A

c.1037A>C

1 paper

NM_005689.4

p.V337M

c.1009G>A

1 paper

NM_005689.4

p.F350C

c.1049T>G

1 paper

NM_005689.4

p.S351P

c.1051T>C

3 papers

NM_005689.4

p.F332L

c.996C>G

3 papers

NM_005689.4

p.F332L

c.996C>A

3 papers

NM_005689.4

p.F332L

c.994T>C

2 papers

NM_005689.4

p.E355K

c.1063G>A

12 papers

NM_005689.4

p.L356P

c.1067T>C

1 paper

NM_005689.4

p.R330C

c.988C>T