Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.M598V

ABCD1

890 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_membrane_2aa 78–352UCSCABC transporter transmembrane region 2
ABC_tranaa 490–633UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 1

HGNC Previous Symbol

ALD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000033.4
p.M598V
c.1792A>G
Surrounding Variants
2 papers
NM_000033.4
p.A597G
c.1790C>G
1 paper
NM_000033.4
p.M598I
c.1794G>A
1 paper
NM_000033.4
p.M598I
c.1794G>C
1 paper
NM_000033.4
p.M598I
c.1794G>T
1 paper
NM_000033.4
p.C599S
c.1796G>C
2 papers
NM_000033.4
p.C599insFs
c.1797dupT
1 paper
NM_000033.4
p.C599_D600insFs
c.1797_1798insA
1 paper
NM_000033.4
p.D600_W601insFs
c.1800_1801insC
6 papers
NM_000033.4
p.W595*
c.1785G>A
5 papers
NM_000033.4
p.W595*
c.1784G>A
1 paper
NM_000033.4
p.W595fs
c.1783_1784fs
8 papers
NM_000033.4
p.W601*
c.1802G>A
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