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

1 paper

NM_024809.5

p.A89_K90Splc

c.267+3A>G

Surrounding Variants

3 papers

NM_024809.5

p.V85fs

c.253_254fs

4 papers

NM_024809.5

p.V85delFs

c.254_255delTG

1 paper

NM_024809.5

p.V83E

c.248T>A

1 paper

NM_024809.5

p.T84_V85del2

c.250_254del6

1 paper

NM_024809.5

p.N76_E77insG

c.226_230ins3

1 paper

NM_024809.5

p.G64Splc

c.191-2A>T

1 paper

NM_024809.5

p.G64Splc

c.191-20T>C

1 paper

NM_024809.5

p.E50D

c.150G>C

1 paper

NM_024809.5

p.E50D

c.150G>T

1 paper

NM_024809.5

p.S44S

c.132C>A

1 paper

NM_024809.5

p.P31R

c.92C>G

1 paper

NM_024809.5

p.P31S

c.91C>T