Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_018475.5

p.I318K

c.953T>A

Surrounding Variants

1 paper

NM_018475.5

p.A310P

c.928G>C

1 paper

NM_018475.5

p.L309insFs

c.926dupT

3 papers

NM_018475.5

p.G304E

c.911G>A

17 papers

NM_018475.5

p.G304R

c.910G>A

14 papers

NM_018475.5

p.G304R

c.910G>C

2 papers

NM_018475.5

p.V300Splc

c.898+2T>G

1 paper

NM_018475.5

p.H277Y

c.829C>T

1 paper

NM_018475.5

p.T274N

c.821C>A

1 paper

NM_018475.5

p.V271M

c.811G>A

19 papers

NM_018475.5

p.E264_D265Splc

c.792+182G>A

1 paper

NM_018475.5

p.A261E

c.782C>A

1 paper

NM_018475.5

p.Q254Fs

c.760delinsCAACTFs