Varaico: Literature-Extracted Genetic Variants

TCTN3

85 papers

RefSeq Summary

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigi...

Pfam Domains

DUF1619_Naa 68–183UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 203–340UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 352–517UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 3

HGNC Previous Symbol

C10orf61

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015631.6

p.E189delFs

c.566_567delCT

Surrounding Variants

3 papers

NM_015631.6

p.E189fs

c.565_566fs

3 papers

NM_015631.6

p.Q184*

c.550C>T

1 paper

NM_015631.6

p.T198I

c.593C>T

1 paper

NM_015631.6

p.A180V

c.539C>T

1 paper

NM_015631.6

p.T201T

c.603T>A

2 papers

NM_015631.6

p.K177delFs

c.530delT

2 papers

NM_015631.6

p.K177fs

c.529_530fs

1 paper

NM_015631.6

p.S206P

c.616T>C

1 paper

NM_015631.6

p.L169V

c.505T>G

1 paper

NM_015631.6

p.G211E

c.632G>A

3 papers

NM_015631.6

p.Y217fs

c.649_650fs

4 papers

NM_015631.6

p.Y217_F218delFs

c.650_653del4