Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S379S

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.S379S
c.1137C>T
Surrounding Variants
1 paper
NM_000033.4
p.S379R
c.1137C>A
1 paper
NM_000033.4
p.S379R
c.1137C>G
1 paper
NM_000033.4
p.E380fs
c.1138_1139fs
1 paper
NM_000033.4
p.S379insFs
c.1135_1136insC
1 paper
NM_000033.4
p.S379R
c.1135A>C
2 papers
NM_000033.4
p.R381C
c.1141C>T
1 paper
NM_000033.4
p.T382_E383delFs
c.1145_1149del5
3 papers
NM_000033.4
p.T382P
c.1144A>C
1 paper
NM_000033.4
p.T382K
c.1145C>A
1 paper
NM_000033.4
p.L377L
c.1129C>T
1 paper
NM_000033.4
p.E383Q
c.1147G>C
1 paper
NM_000033.4
p.E383_T386delFs
c.1148_1157del10
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."