Varaico: Literature-Extracted Genetic Variants

Gene:TMEM165

TMEM165

66 papers

RefSeq Summary

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital di...

Pfam Domains

GDT1aa 98–171UCSCDivalent cation/proton antiporter GDT1
GDT1aa 238–312UCSCDivalent cation/proton antiporter GDT1

Gene Aliases

HGNC Name

transmembrane protein 165

HGNC Alias Symbols

TMPT27; TPARL; GDT1; SLC64A1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
19 papers
NM_018475.5
p.E264_D265Splc
c.792+182G>A
18 papers
NM_018475.5
p.R126H
c.377G>A
17 papers
NM_018475.5
p.R126C
c.376C>T
17 papers
NM_018475.5
p.G304R
c.910G>A
14 papers
NM_018475.5
p.G304R
c.910G>C
13 papers
NM_018475.5
p.E108G
c.323A>G
3 papers
NM_018475.5
p.P6P
c.18A>G
3 papers
NM_018475.5
p.E45D
c.135A>C
3 papers
NM_018475.5
p.E45D
c.135A>T
3 papers
NM_018475.5
p.G304E
c.911G>A
2 papers
NM_018475.5
p.P28delFs
c.83delC
2 papers
NM_018475.5
p.D111G
c.332A>G
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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."