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

5 papers

NM_015631.6

p.Y326*

c.978T>G

Surrounding Variants

5 papers

NM_015631.6

p.Y326*

c.978T>A

2 papers

NM_015631.6

p.K338_V341del4

c.1012_1022del12

1 paper

NM_015631.6

p.G344R

c.1030G>C

1 paper

NM_015631.6

p.G344R

c.1030G>A

1 paper

NM_015631.6

p.L356L

c.1068A>G

1 paper

NM_015631.6

p.V320A

c.959T>C

6 papers

NM_015631.6

p.G314R

c.940G>C

8 papers

NM_015631.6

p.G314R

c.940G>A

1 paper

NM_015631.6

p.A309S

c.925G>T

1 paper

NM_015631.6

p.S305P

c.913T>C

6 papers

NM_015631.6

p.Q408*

c.1222C>T

1 paper

NM_015631.6

p.S412_C413del2

c.1234_1238del6