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

1–12 of 129 variants

11 papers

NM_012464.5

p.V238A

c.713T>C

7 papers

NM_012464.5

p.M182L

c.544A>C

7 papers

NM_012464.5

p.M182L

c.544A>T

7 papers

NM_012464.5

p.T958A

c.2872A>G

6 papers

NM_012464.5

p.I629V

c.1885A>G

4 papers

NM_012464.5

p.T748M

c.2243C>T

3 papers

NM_012464.5

p.I263V

c.787A>G

3 papers

NM_012464.5

p.A460Splc

c.1379-2A>G

3 papers

NM_012464.5

p.R467C

c.1399C>T

3 papers

NM_012464.5

p.L688V

c.2062C>G

2 papers

NM_012464.5

p.R422T

c.1265G>C

2 papers

NM_012464.5

p.A460fs

c.1378_1379fs