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

1–12 of 90 variants

8 papers

NM_015631.6

p.G314R

c.940G>A

6 papers

NM_015631.6

p.G314R

c.940G>C

6 papers

NM_015631.6

p.Q408*

c.1222C>T

5 papers

NM_015631.6

p.K284_V285Splc

c.853-1G>T

5 papers

NM_015631.6

p.Y326*

c.978T>G

5 papers

NM_015631.6

p.Y326*

c.978T>A

5 papers

NM_015631.6

p.L450delFs

c.1348_1349delAG

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

4 papers

NM_015631.6

p.E189delFs

c.566_567delCT

4 papers

NM_015631.6

p.Y217_F218delFs

c.650_653del4