Varaico: Literature-Extracted Genetic Variants

TBC1D32

116 papers

RefSeq Summary

This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts w...

Pfam Domains

BROMI_Naa 12–138UCSCBroad-minded protein N-terminal domain

BROMIaa 172–844UCSCBroad-minded protein central region

BROMI_Caa 826–1252UCSCBroad-minded protein Rab TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 32

HGNC Previous Symbols

C6orf171; C6orf170

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152730.6

p.I631V

c.1891A>G

Surrounding Variants

1 paper

NM_152730.6

p.Y633*

c.1899T>G

1 paper

NM_152730.6

p.Y633*

c.1899T>A

1 paper

NM_152730.6

p.S638F

c.1913C>T

1 paper

NM_152730.6

p.I639L

c.1915A>T

1 paper

NM_152730.6

p.I639L

c.1915A>C

1 paper

NM_152730.6

p.R618C

c.1852C>T

1 paper

NM_152730.6

p.K645E

c.1933A>G

1 paper

NM_152730.6

p.S615C

c.1844C>G

1 paper

NM_152730.6

p.G602V

c.1805G>T

4 papers

NM_152730.6

p.I599V

c.1795A>G

1 paper

NM_152730.6

p.D596Y

c.1786G>T

1 paper

NM_152730.6

p.D594N

c.1780G>A