Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.I344T

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.I344T
c.1031T>C
Surrounding Variants
1 paper
NM_005050.4
p.T350R
c.1049C>G
1 paper
NM_005050.4
p.S358P
c.1072T>C
2 papers
NM_005050.4
p.E362K
c.1084G>A
1 paper
NM_005050.4
p.G365C
c.1093G>T
13 papers
NM_005050.4
p.E368K
c.1102G>A
1 paper
NM_005050.4
p.W369*
c.1106G>A
1 paper
NM_005050.4
p.R343Splc
c.1028+6G>T
4 papers
NM_005050.4
p.R343I
c.1028G>T
1 paper
NM_005050.4
p.H342R
c.1025A>G
1 paper
NM_005050.4
p.D336A
c.1007A>C
1 paper
NM_005050.4
p.L334F
c.1000C>T
1 paper
NM_005050.4
p.T332M
c.995C>T
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