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

3 papers

NM_001082538.3

p.V74Splc

c.221-2A>G

Surrounding Variants

1 paper

NM_001082538.3

p.A75V

c.224C>T

1 paper

NM_001082538.3

p.V76delFs

c.227_228delTT

2 papers

NM_001082538.3

p.D88N

c.262G>A

1 paper

NM_001082538.3

p.C93*

c.279T>A

2 papers

NM_001082538.3

p.D96N

c.286G>A

1 paper

NM_001082538.3

p.D73delFs

c.217delG

1 paper

NM_001082538.3

p.P70L

c.209C>T

1 paper

NM_001082538.3

p.S50_T51delFs

c.150_153del4

1 paper

NM_001082538.3

p.E33fs

c.97_98fs

2 papers

NM_001082538.3

p.T32insFs

c.96dupA

2 papers

NM_001082538.3

p.T32_A43del12

c.94_128del36

1 paper

NM_001082538.3

p.T24S

c.70A>T