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

1 paper

NM_012464.5

p.R152K

c.455G>A

Surrounding Variants

1 paper

NM_012464.5

p.R147K

c.440G>A

1 paper

NM_012464.5

p.E141G

c.422A>G

1 paper

NM_012464.5

p.F136C

c.407T>G

1 paper

NM_012464.5

p.N169T

c.506A>C

1 paper

NM_012464.5

p.T171insFs

c.512_513insGC

1 paper

NM_012464.5

p.G172D

c.515G>A

1 paper

NM_012464.5

p.G130R

c.388G>A

1 paper

NM_012464.5

p.E123Q

c.367G>C

1 paper

NM_012464.5

p.G172D

c.515G>A

1 paper

NM_012464.5

p.F178L

c.532T>C

7 papers

NM_012464.5

p.M182L

c.544A>C

1 paper

NM_012464.5

p.M182V

c.544A>G