Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.P142P

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.P142P
c.426G>A
Surrounding Variants
1 paper
NM_005050.4
p.P142L
c.425C>T
1 paper
NM_005050.4
p.R145C
c.433C>T
2 papers
NM_005050.4
p.S147N
c.440G>A
1 paper
NM_005050.4
p.V150delins
c.448_449delinsCC
1 paper
NM_005050.4
p.E151G
c.452A>G
1 paper
NM_005050.4
p.F153L
c.459C>G
1 paper
NM_005050.4
p.R155W
c.463C>T
1 paper
NM_005050.4
p.M160I
c.480G>A
1 paper
NM_005050.4
p.I166M
c.498C>G
1 paper
NM_005050.4
p.P168S
c.502C>T
1 paper
NM_005050.4
p.P168T
c.502C>A
3 papers
NM_005050.4
p.V172I
c.514G>A
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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."