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

3 papers

NM_015631.6

p.Q293*

c.877C>T

Surrounding Variants

1 paper

NM_015631.6

p.E296_F297Splc

c.888+1G>T

5 papers

NM_015631.6

p.K284_V285Splc

c.853-1G>T

1 paper

NM_015631.6

p.R257C

c.769C>T

1 paper

NM_015631.6

p.C239_A240delFs

c.717_718delCA

1 paper

NM_015631.6

p.G236V

c.707G>T

1 paper

NM_015631.6

p.G236W

c.706G>T

4 papers

NM_015631.6

p.Y217_F218delFs

c.650_653del4

3 papers

NM_015631.6

p.Y217fs

c.649_650fs

1 paper

NM_015631.6

p.G211E

c.632G>A

1 paper

NM_015631.6

p.S305P

c.913T>C

1 paper

NM_015631.6

p.A309S

c.925G>T

6 papers

NM_015631.6

p.G314R

c.940G>C