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

4 papers

NM_152730.6

p.K717fs

c.2149_2150fs

Surrounding Variants

7 papers

NM_152730.6

p.K717delFs

c.2151delT

1 paper

NM_152730.6

p.Q719H

c.2157G>T

1 paper

NM_152730.6

p.Q719H

c.2157G>C

3 papers

NM_152730.6

p.N712D

c.2134A>G

1 paper

NM_152730.6

p.I703V

c.2107A>G

1 paper

NM_152730.6

p.Q698*

c.2092C>T

1 paper

NM_152730.6

p.G693fs

c.2077_2078fs

1 paper

NM_152730.6

p.P691delFs

c.2073delG

1 paper

NM_152730.6

p.K724T

c.2171A>C

1 paper

NM_152730.6

p.G729*

c.2185G>T

1 paper

NM_152730.6

p.G729V

c.2186G>T

3 papers

NM_152730.6

p.R734*

c.2200C>T