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.E677*

c.2029G>T

Surrounding Variants

1 paper

NM_012464.5

p.V670F

c.2008G>T

3 papers

NM_012464.5

p.L688V

c.2062C>G

1 paper

NM_012464.5

p.H689P

c.2066A>C

1 paper

NM_012464.5

p.A695T

c.2083G>A

1 paper

NM_012464.5

p.V697M

c.2089G>A

1 paper

NM_012464.5

p.I701F

c.2101A>T

1 paper

NM_012464.5

p.T702A

c.2104A>G

1 paper

NM_012464.5

p.I710_E711delFs

c.2129_2132del4

1 paper

NM_012464.5

p.S714Y

c.2141C>A

1 paper

NM_012464.5

p.D715N

c.2143G>A

1 paper

NM_012464.5

p.G722D

c.2165G>A

1 paper

NM_012464.5

p.A725S

c.2173G>T