Varaico: Literature-Extracted Genetic Variants

TCTN2

106 papers

RefSeq Summary

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutati...

Pfam Domains

DUF1619_Naa 146–261UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 275–368UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 388–577UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 2

HGNC Previous Symbol

C12orf38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_024809.5

p.D26fs

c.76_77fs

Surrounding Variants

2 papers

NM_024809.5

p.D26insFs

c.76dupG

3 papers

NM_024809.5

p.G25delFs

c.74delG

1 paper

NM_024809.5

p.L10V

c.28C>G

2 papers

NM_024809.5

p.L9V

c.25C>G

1 paper

NM_024809.5

p.A8T

c.22G>A

1 paper

NM_024809.5

p.M1T

c.2T>C

1 paper

NM_024809.5

p.A28_F29delFs

c.84_85delTT

1 paper

NM_024809.5

p.I30T

c.89T>C

1 paper

NM_024809.5

p.P31S

c.91C>T

1 paper

NM_024809.5

p.P31R

c.92C>G

1 paper

NM_024809.5

p.S44S

c.132C>A

1 paper

NM_024809.5

p.E50D

c.150G>C