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

4 papers

NM_015631.6

p.Q443*

c.1327C>T

Surrounding Variants

1 paper

NM_015631.6

p.E445K

c.1333G>A

3 papers

NM_015631.6

p.L450fs

c.1348_1349fs

1 paper

NM_015631.6

p.L450fs

c.1348_1349fs

5 papers

NM_015631.6

p.L450delFs

c.1348_1349delAG

1 paper

NM_015631.6

p.A468V

c.1403C>T

1 paper

NM_015631.6

p.R475fs

c.1423_1424fs

1 paper

NM_015631.6

p.R475R

c.1425G>A

1 paper

NM_015631.6

p.R475_L477delFs

c.1423_1429del7

4 papers

NM_015631.6

p.R479S

c.1437G>T

4 papers

NM_015631.6

p.R479S

c.1437G>C

1 paper

NM_015631.6

p.H480Y

c.1438C>T

2 papers

NM_015631.6

p.C481fs

c.1441_1442fs