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

1–12 of 114 variants

16 papers

NM_024809.5

p.R502Splc

c.1506-2A>G

8 papers

NM_024809.5

p.N429insFs

c.1286dupA

7 papers

NM_024809.5

p.N429fs

c.1285_1286fs

5 papers

NM_024809.5

p.Q625*

c.1873C>T

4 papers

NM_024809.5

p.V85delFs

c.254_255delTG

4 papers

NM_024809.5

p.Q306*

c.916C>T

4 papers

NM_024809.5

p.G373R

c.1117G>A

4 papers

NM_024809.5

p.G373R

c.1117G>C

4 papers

NM_024809.5

p.G412Splc

c.1235-1G>A

4 papers

NM_024809.5

p.Q618*

c.1852C>T

3 papers

NM_024809.5

p.G25delFs

c.74delG

3 papers

NM_024809.5

p.D26fs

c.76_77fs