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

2 papers

NM_018475.5

p.P28delFs

c.83delC

Surrounding Variants

1 paper

NM_018475.5

p.F20I

c.58T>A

1 paper

NM_018475.5

p.D38H

c.112G>C

1 paper

NM_018475.5

p.R10H

c.29G>A

1 paper

NM_018475.5

p.G9D

c.26G>A

3 papers

NM_018475.5

p.E45D

c.135A>C

3 papers

NM_018475.5

p.E45D

c.135A>T

1 paper

NM_018475.5

p.N8insFs

c.23dupA

3 papers

NM_018475.5

p.P6P

c.18A>G

1 paper

NM_018475.5

p.P47R

c.140C>G

1 paper

NM_018475.5

p.P6delFs

c.18delA

1 paper

NM_018475.5

p.P6fs

c.16_17fs

1 paper

NM_018475.5

p.Q51*

c.151C>T