Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.M1L

ABCB7

146 papers

RefSeq Summary

The membrane-associated 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-cellula...

Pfam Domains

ABC_membraneaa 111–385UCSCABC transporter transmembrane region
ABC_tranaa 449–598UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 7

HGNC Previous Symbol

ABC7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271696.3
p.M1L
c.1A>T
Surrounding Variants
1 paper
NM_001271696.3
p.M1L
c.1A>C
1 paper
NM_001271696.3
p.M1T
c.2T>C
1 paper
NM_001271696.3
p.M1I
c.3G>T
1 paper
NM_001271696.3
p.M1I
c.3G>C
1 paper
NM_001271696.3
p.M1I
c.3G>A
1 paper
NM_001271696.3
p.A5V
c.14C>T
1 paper
NM_001271696.3
p.M6V
c.16A>G
1 paper
NM_001271696.3
p.R22Q
c.65G>A
1 paper
NM_001271696.3
p.W41R
c.121T>C
1 paper
NM_001271696.3
p.W41R
c.121T>A
2 papers
NM_001271696.3
p.G50E
c.149G>A
1 paper
NM_001271696.3
p.Q56K
c.166C>A
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