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

1–12 of 153 variants

11 papers

NM_152730.6

p.G458Splc

c.1372+1G>T

7 papers

NM_152730.6

p.K717delFs

c.2151delT

6 papers

NM_152730.6

p.A739T

c.2215G>A

5 papers

NM_152730.6

p.E106Splc

c.317+5G>A

5 papers

NM_152730.6

p.V389insFs

c.1165_1166dupGT

5 papers

NM_152730.6

p.R1242*

c.3724C>T

4 papers

NM_152730.6

p.L380_V381Splc

c.1141-1G>A

4 papers

NM_152730.6

p.Q390fs

c.1168_1169fs

4 papers

NM_152730.6

p.E423*

c.1267G>T

4 papers

NM_152730.6

p.I599V

c.1795A>G

4 papers

NM_152730.6

p.K717fs

c.2149_2150fs

4 papers

NM_152730.6

p.G1061A

c.3182G>C