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.S407*

c.1220C>G

Surrounding Variants

1 paper

NM_152730.6

p.C395S

c.1184G>C

1 paper

NM_152730.6

p.C395S

c.1183T>A

4 papers

NM_152730.6

p.Q390fs

c.1168_1169fs

5 papers

NM_152730.6

p.V389insFs

c.1165_1166dupGT

1 paper

NM_152730.6

p.V389insFs

c.1166_1167insGT

4 papers

NM_152730.6

p.L380_V381Splc

c.1141-1G>A

4 papers

NM_152730.6

p.E423*

c.1267G>T

1 paper

NM_152730.6

p.K457I

c.1370A>T

11 papers

NM_152730.6

p.G458Splc

c.1372+1G>T

1 paper

NM_152730.6

p.G458Splc

c.1372+1G>A

1 paper

NM_152730.6

p.T375K

c.1124C>A

1 paper

NM_152730.6

p.R371K

c.1112G>A