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.Q755H

c.2265A>T

Surrounding Variants

1 paper

NM_012464.5

p.Q755H

c.2265A>C

4 papers

NM_012464.5

p.T748M

c.2243C>T

1 paper

NM_012464.5

p.P781_P788del0

c.2343_2363del21

1 paper

NM_012464.5

p.S782R

c.2344A>C

1 paper

NM_012464.5

p.S782R

c.2346T>A

1 paper

NM_012464.5

p.S782R

c.2346T>G

1 paper

NM_012464.5

p.F728delFs

c.2184delC

1 paper

NM_012464.5

p.A725S

c.2173G>T

1 paper

NM_012464.5

p.G722D

c.2165G>A

1 paper

NM_012464.5

p.D715N

c.2143G>A

1 paper

NM_012464.5

p.S714Y

c.2141C>A

1 paper

NM_012464.5

p.I710_E711delFs

c.2129_2132del4