Varaico: Literature-Extracted Genetic Variants

TLL1

142 papers

RefSeq Summary

This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-l...

Pfam Domains

Astacinaa 149–345UCSCAstacin (Peptidase family M12A)

CUBaa 349–458UCSCCUB domain

CUBaa 462–571UCSCCUB domain

FXa_inhibitionaa 578–614UCSCCoagulation Factor Xa inhibitory site

CUBaa 618–727UCSCCUB domain

FXa_inhibitionaa 734–769UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

tolloid like 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_012464.5

p.A460Splc

c.1379-2A>G

Surrounding Variants

2 papers

NM_012464.5

p.A460fs

c.1378_1379fs

3 papers

NM_012464.5

p.R467C

c.1399C>T

1 paper

NM_012464.5

p.E470*

c.1408G>T

1 paper

NM_012464.5

p.P476S

c.1426C>T

1 paper

NM_012464.5

p.P479P

c.1437T>G

1 paper

NM_012464.5

p.P484T

c.1450C>A

1 paper

NM_012464.5

p.A455V

c.1364C>T

1 paper

NM_012464.5

p.R444H

c.1331G>A

1 paper

NM_012464.5

p.T433_S437delins

c.1299_1310delinsAATCTA

1 paper

NM_012464.5

p.G425E

c.1274G>A

2 papers

NM_012464.5

p.R422T

c.1265G>C

1 paper

NM_012464.5

p.V409V

c.1227A>G