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.E1082D

c.3246A>T

Surrounding Variants

1 paper

NM_152730.6

p.E1082D

c.3246A>C

1 paper

NM_152730.6

p.S1092P

c.3274T>C

4 papers

NM_152730.6

p.G1061A

c.3182G>C

2 papers

NM_152730.6

p.R1104T

c.3311G>C

1 paper

NM_152730.6

p.C1058F

c.3173G>T

2 papers

NM_001367760.1

p.L1098Splc

c.3292+5C>A

NM_152730.6

p.L1057Splc

c.3169+5C>A

1 paper

NM_152730.6

p.L1038*

c.3113T>G

1 paper

NM_152730.6

p.L1038*

c.3113T>A

1 paper

NM_152730.6

p.D1028N

c.3082G>A

1 paper

NM_152730.6

p.S1109fs

c.3325_3326fs

2 papers

NM_152730.6

p.S1109fs

c.3325_3326fs

3 papers

NM_152730.6

p.S1109delFs

c.3325_3326delCT