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

1 paper

NM_015631.6

p.L38Q

c.113T>A

Surrounding Variants

1 paper

NM_015631.6

p.S26insFs

c.76_77insG

1 paper

NM_015631.6

p.F16C

c.47T>G

1 paper

NM_015631.6

p.P61insFs

c.182dupC

1 paper

NM_015631.6

p.G62fs

c.184_185fs

1 paper

NM_015631.6

p.T65P

c.193A>C

1 paper

NM_015631.6

p.S74P

c.220T>C

1 paper

NM_015631.6

p.R2S

c.4C>A

4 papers

NM_015631.6

p.M1I

c.3G>T

4 papers

NM_015631.6

p.M1I

c.3G>C

4 papers

NM_015631.6

p.M1I

c.3G>A

1 paper

NM_015631.6

p.M1R

c.2T>G

2 papers

NM_015631.6

p.A75V

c.224C>T