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.C99F

c.296G>T

Surrounding Variants

1 paper

NM_015631.6

p.T95P

c.283A>C

1 paper

NM_015631.6

p.Y110C

c.329A>G

2 papers

NM_015631.6

p.V86Splc

c.257-1G>A

2 papers

NM_015631.6

p.H113fs

c.337_338fs

1 paper

NM_015631.6

p.H113R

c.338A>G

2 papers

NM_015631.6

p.H113_P114delFs

c.338_341del4

1 paper

NM_015631.6

p.P123L

c.368C>T

1 paper

NM_015631.6

p.G124D

c.371G>A

1 paper

NM_015631.6

p.L83H

c.248T>A

1 paper

NM_015631.6

p.P76_G77insG

c.226_230ins3

2 papers

NM_015631.6

p.A75V

c.224C>T

1 paper

NM_015631.6

p.S74P

c.220T>C