Varaico: Literature-Extracted Genetic Variants

TCTN2

106 papers

RefSeq Summary

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutati...

Pfam Domains

DUF1619_Naa 146–261UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 275–368UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 388–577UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 2

HGNC Previous Symbol

C12orf38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024809.5

p.G345Splc

c.1033+423G>A

Surrounding Variants

1 paper

NM_024809.5

p.G332S

c.994G>A

1 paper

NM_024809.5

p.T322I

c.965C>T

1 paper

NM_024809.5

p.K319K

c.957A>G

1 paper

NM_024809.5

p.K319E

c.955A>G

1 paper

NM_024809.5

p.V318D

c.953T>A

1 paper

NM_024809.5

p.N307I

c.920A>T

4 papers

NM_024809.5

p.Q306*

c.916C>T

1 paper

NM_024809.5

p.V298M

c.892G>A

1 paper

NM_024809.5

p.I346fs

c.1036_1037fs

1 paper

NM_024809.5

p.P349delFs

c.1047delA

1 paper

NM_024809.5

p.V351fs

c.1051_1052fs

1 paper

NM_024809.5

p.E354Q

c.1060G>C