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.A261E

c.782C>A

Surrounding Variants

1 paper

NM_018475.5

p.Q254Fs

c.760delinsCAACTFs

1 paper

NM_018475.5

p.R252G

c.754C>G

1 paper

NM_018475.5

p.D251G

c.752A>G

1 paper

NM_018475.5

p.E248A

c.743A>C

1 paper

NM_018475.5

p.E248G

c.743A>G

1 paper

NM_018475.5

p.T242S

c.724A>T

1 paper

NM_018475.5

p.I233M

c.699T>G

1 paper

NM_018475.5

p.T218M

c.653C>T

1 paper

NM_018475.5

p.G212R

c.634G>A

1 paper

NM_018475.5

p.G212R

c.634G>C

1 paper

NM_018475.5

p.K208R

c.623A>G

19 papers

NM_018475.5

p.E264_D265Splc

c.792+182G>A