Varaico: Literature-Extracted Genetic Variants

TCTN1

93 papers

RefSeq Summary

This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This...

Pfam Domains

DUF1619_Naa 56–175UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 203–369UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 376–560UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 1

HGNC Alias Symbols

FLJ21127; TECT1; JBTS13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001082538.3

p.G466C

c.1396G>T

Surrounding Variants

3 papers

NM_001082538.3

p.W463fs

c.1387_1388fs

3 papers

NM_001082538.3

p.L462insFs

c.1385dupT

2 papers

NM_001082538.3

p.P473delFs

c.1418delC

1 paper

NM_001082538.3

p.K459_S460delFs

c.1377_1378delGA

1 paper

NM_001082538.3

p.P473S

c.1417C>T

2 papers

NM_001082538.3

p.P473fs

c.1417_1418fs

1 paper

NM_001082538.3

p.K459delFs

c.1375_1376delAA

1 paper

NM_001082538.3

p.A479V

c.1436C>T

1 paper

NM_001082538.3

p.M482T

c.1445T>C

1 paper

NM_001082538.3

p.L449F

c.1345C>T

1 paper

NM_001082538.3

p.D484_V486del3

c.1450_1457del9

1 paper

NM_001082538.3

p.W485_V486del2

c.1453_1457del6