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.G5D

c.14G>A

Surrounding Variants

2 papers

NM_001082538.3

p.L6delFs

c.16delC

1 paper

NM_001082538.3

p.P7T

c.19C>A

1 paper

NM_001082538.3

p.P7Q

c.20C>A

4 papers

NM_001082538.3

p.V11_G15del0

c.32_43del12

1 paper

NM_001082538.3

p.R2fs

c.4_5fs

1 paper

NM_001082538.3

p.M1I

c.3G>A

3 papers

NM_001082538.3

p.M1I

c.3G>C

1 paper

NM_001082538.3

p.M1I

c.3G>T

2 papers

NM_001082538.3

p.V11A

c.32T>C

1 paper

NM_001082538.3

p.G15C

c.43G>T

1 paper

NM_001082538.3

p.G15G

c.45C>T

1 paper

NM_001082538.3

p.T24S

c.70A>T