Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L605L

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
3 papers
NM_000033.4
p.L605L
c.1815G>T
Surrounding Variants
1 paper
NM_000033.4
p.S606_G607del2
c.1816_1820del6
5 papers
NM_000033.4
p.L605Q
c.1814T>A
27 papers
NM_000033.4
p.S606P
c.1816T>C
2 papers
NM_000033.4
p.L605P
c.1814T>C
2 papers
NM_000033.4
p.L605R
c.1814T>G
1 paper
NM_000033.4
p.S606A
c.1816T>G
1 paper
NM_000033.4
p.S606*
c.1817C>A
2 papers
NM_000033.4
p.L605V
c.1813C>G
44 papers
NM_000033.4
p.S606L
c.1817C>T
2 papers
NM_000033.4
p.G607delFs
c.1820delG
1 paper
NM_000033.4
p.L605_Q611delFs
c.1813_1831del19
4 papers
NM_000033.4
p.G607D
c.1820G>A
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