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.H606Q

c.1818C>G

Surrounding Variants

1 paper

NM_024809.5

p.H606Q

c.1818C>A

1 paper

NM_024809.5

p.Q599H

c.1797G>C

1 paper

NM_024809.5

p.Q599H

c.1797G>T

1 paper

NM_024809.5

p.Q599*

c.1795C>T

4 papers

NM_024809.5

p.Q618*

c.1852C>T

1 paper

NM_024809.5

p.S592fs

c.1774_1775fs

1 paper

NM_024809.5

p.P623S

c.1867C>T

5 papers

NM_024809.5

p.Q625*

c.1873C>T

1 paper

NM_024809.5

p.L626insFs

c.1877dupT

1 paper

NM_024809.5

p.L626fs

c.1876_1877fs

1 paper

NM_024809.5

p.L626*

c.1877T>A

1 paper

NM_024809.5

p.L626*

c.1877T>G