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.I116V

c.346A>G

Surrounding Variants

1 paper

NM_018475.5

p.A117E

c.350C>A

1 paper

NM_018475.5

p.I119I

c.357C>A

2 papers

NM_018475.5

p.D111G

c.332A>G

1 paper

NM_018475.5

p.D111Y

c.331G>T

1 paper

NM_018475.5

p.E108A

c.323A>C

13 papers

NM_018475.5

p.E108G

c.323A>G

1 paper

NM_018475.5

p.Y124S

c.371A>C

1 paper

NM_018475.5

p.Y124F

c.371A>T

17 papers

NM_018475.5

p.R126C

c.376C>T

18 papers

NM_018475.5

p.R126H

c.377G>A

1 paper

NM_018475.5

p.T128T

c.384C>T

1 paper

NM_018475.5

p.A86V

c.257C>T