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

5 papers

NM_152730.6

p.R1242*

c.3724C>T

Surrounding Variants

1 paper

NM_152730.6

p.L1246P

c.3737T>C

1 paper

NM_152730.6

p.D1248E

c.3744C>G

1 paper

NM_152730.6

p.D1248E

c.3744C>A

2 papers

NM_152730.6

p.E1232A

c.3695A>C