Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.R251H

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
2 papers
NM_005050.4
p.R251H
c.752G>A
Surrounding Variants
1 paper
NM_005050.4
p.R251L
c.752G>T
4 papers
NM_005050.4
p.R251C
c.751C>T
1 paper
NM_005050.4
p.Q254*
c.760C>T
1 paper
NM_005050.4
p.Q254R
c.761A>G
2 papers
NM_005050.4
p.H243_V244insFs
c.729_730insTT
1 paper
NM_005050.4
p.T259S
c.775A>T
2 papers
NM_005050.4
p.T259I
c.776C>T
1 paper
NM_005050.4
p.T259S
c.776C>G
1 paper
NM_005050.4
p.R261K
c.782G>A
1 paper
NM_005050.4
p.L270_Y271insA
c.808_812ins3
1 paper
NM_005050.4
p.L284_S285delFs
c.852_855del4
1 paper
NM_005050.4
p.A290T
c.868G>A
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