Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.D329N

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.D329N
c.985G>A
Surrounding Variants
1 paper
NM_005050.4
p.D329A
c.986A>C
3 papers
NM_005050.4
p.L327L
c.981C>A
1 paper
NM_005050.4
p.Q326R
c.977A>G
1 paper
NM_005050.4
p.T332M
c.995C>T
1 paper
NM_005050.4
p.T332K
c.995C>A
1 paper
NM_005050.4
p.L334F
c.1000C>T
1 paper
NM_005050.4
p.D336A
c.1007A>C
1 paper
NM_005050.4
p.Y319F
c.956A>T
12 papers
NM_005050.4
p.Y319C
c.956A>G
1 paper
NM_005050.4
p.I318N
c.953T>A
1 paper
NM_005050.4
p.H342R
c.1025A>G
4 papers
NM_005050.4
p.R343I
c.1028G>T
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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."