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

6 papers

NM_012464.5

p.I629V

c.1885A>G

Surrounding Variants

1 paper

NM_012464.5

p.G627D

c.1880G>A

1 paper

NM_012464.5

p.E661Q

c.1981G>C

1 paper

NM_012464.5

p.G667S

c.1999G>A

1 paper

NM_012464.5

p.A616P

c.1846G>C

1 paper

NM_012464.5

p.E606K

c.1816G>A

1 paper

NM_012464.5

p.N592S

c.1775A>G

1 paper

NM_012464.5

p.Q588H

c.1764G>C

1 paper

NM_012464.5

p.Q588H

c.1764G>T

2 papers

NM_012464.5

p.R583H

c.1748G>A

2 papers

NM_012464.5

p.R583S

c.1747C>A

1 paper

NM_012464.5

p.R583C

c.1747C>T

1 paper

NM_012464.5

p.D524E

c.1572T>A