Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A362_K366delFs

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
1 paper
NM_000033.4
p.A362_K366delFs
c.1086_1098del13
Surrounding Variants
1 paper
NM_000033.4
p.E363del1
c.1087_1088delGAG
1 paper
NM_000033.4
p.A362S
c.1084G>T
1 paper
NM_000033.4
p.D361G
c.1082A>G
1 paper
NM_000033.4
p.E363G
c.1088A>G
1 paper
NM_000033.4
p.D361Splc
c.1082-1G>A
1 paper
NM_000033.4
p.A364delFs
c.1092delC
1 paper
NM_000033.4
p.V365_A368delFs
c.1093_1103del11
1 paper
NM_000033.4
p.V365fs
c.1093_1094fs
1 paper
NM_000033.4
p.K367M
c.1100A>T
1 paper
NM_000033.4
p.L370*
c.1109T>A
1 paper
NM_000033.4
p.E371*
c.1111G>T
1 paper
NM_000033.4
p.K372delFs
c.1115delA
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