Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.R579Q

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
5 papers
NM_005050.4
p.R579Q
c.1736G>A
Surrounding Variants
4 papers
NM_005050.4
p.L582_E583insFs
c.1746_1747insCT
3 papers
NM_005050.4
p.E583fs
c.1747_1748fs
1 paper
NM_005050.4
p.E583fs
c.1747_1748fs
1 paper
NM_005050.4
p.R564L
c.1691G>T
1 paper
NM_005050.4
p.K584_F585Splc
c.1752+41C>T
2 papers
NM_005050.4
p.E556delFs
c.1667_1668delCT
2 papers
NM_005050.4
p.E556fs
c.1666_1667fs
1 paper
NM_005050.4
p.E549Q
c.1645G>C
2 papers
NM_005050.4
p.D548N
c.1642G>A
1 paper
NM_005050.4
p.K584_F585Splc
c.1753-12G>A
1 paper
NM_005050.4
p.L592fs
c.1774_1775fs
1 paper
NM_005050.4
p.L592_C593delFs
c.1776_1777delAG
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