Varaico: Literature-Extracted Genetic Variants

TLL2

99 papers

RefSeq Summary

This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C...

Pfam Domains

Astacinaa 151–347UCSCAstacin (Peptidase family M12A)

CUBaa 351–460UCSCCUB domain

CUBaa 464–573UCSCCUB domain

FXa_inhibitionaa 580–616UCSCCoagulation Factor Xa inhibitory site

CUBaa 620–729UCSCCUB domain

EGF_CAaa 732–771UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

tolloid like 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

3 papers

NM_012465.4

p.R333Q

c.998G>A

3 papers

NM_012465.4

p.E975D

c.2925A>T

3 papers

NM_012465.4

p.E975D

c.2925A>C

2 papers

NM_012465.4

p.A302S

c.904G>T

2 papers

NM_012465.4

p.P431L

c.1292C>T

2 papers

NM_012465.4

p.R440L

c.1319G>T

2 papers

NM_012465.4

p.T495M

c.1484C>T

2 papers

NM_012465.4

p.H514R

c.1541A>G

2 papers

NM_012465.4

p.G880D

c.2639G>A

2 papers

NM_012465.4

p.E975K

c.2923G>A

1 paper

NM_012465.4

p.M1K

c.2T>A

1 paper

NM_012465.4

p.P2H

c.5C>A