Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.R127H

ABCD4

163 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 27–294UCSCABC transporter transmembrane region 2
ABC_tranaa 404–552UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 4

HGNC Previous Symbol

PXMP1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005050.4
p.R127H
c.380G>A
Surrounding Variants
3 papers
NM_005050.4
p.A128V
c.383C>T
4 papers
NM_005050.4
p.Y129insFs
c.385_386insG
1 paper
NM_005050.4
p.R125fs
c.373_374fs
1 paper
NM_005050.4
p.R125delFs
c.373delG
1 paper
NM_005050.4
p.R125W
c.373C>T
1 paper
NM_005050.4
p.Y130C
c.389A>G
3 papers
NM_005050.4
p.L132F
c.394C>T
1 paper
NM_005050.4
p.L132L
c.396C>T
1 paper
NM_005050.4
p.L122F
c.364C>T
1 paper
NM_005050.4
p.R121H
c.362G>A
1 paper
NM_005050.4
p.V134M
c.400G>A
1 paper
NM_005050.4
p.H120D
c.358C>G
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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."