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.E283Q

c.847G>C

Surrounding Variants

1 paper

NM_012464.5

p.E273E

c.819G>A

1 paper

NM_012464.5

p.A300T

c.898G>A

1 paper

NM_012464.5

p.G271Splc

c.811+6A>G

3 papers

NM_012464.5

p.I263V

c.787A>G

1 paper

NM_012464.5

p.R257Q

c.770G>A

1 paper

NM_012464.5

p.T253I

c.758C>T

1 paper

NM_012464.5

p.T253A

c.757A>G

11 papers

NM_012464.5

p.V238A

c.713T>C

1 paper

NM_012464.5

p.G229V

c.686G>T

1 paper

NM_012464.5

p.Q224_S227del4

c.670_680del12

1 paper

NM_012464.5

p.R218L

c.653G>T

1 paper

NM_012464.5

p.L332P

c.995T>C