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.Y263fs

c.787_788fs

Surrounding Variants

3 papers

NM_152730.6

p.N282fs

c.844_845fs

1 paper

NM_152730.6

p.A257Splc

c.769+5G>A

1 paper

NM_152730.6

p.D231fs

c.691_692fs

1 paper

NM_152730.6

p.H329D

c.985C>G

1 paper

NM_152730.6

p.D350A

c.1049A>C

1 paper

NM_152730.6

p.W359C

c.1077G>T

1 paper

NM_152730.6

p.W359C

c.1077G>C

1 paper

NM_152730.6

p.L197_C198del2

c.589_593del6

1 paper

NM_152730.6

p.L197del1

c.589_590delTAA

2 papers

NM_152730.6

p.M360_H361Splc

c.1081-1G>A

1 paper

NM_152730.6

p.V369fs

c.1105_1106fs

1 paper

NM_152730.6

p.R371K

c.1112G>A