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

Selected Variant

1 paper

NM_012465.4

p.V931M

c.2791G>A

Surrounding Variants

1 paper

NM_012465.4

p.G930S

c.2788G>A

1 paper

NM_012465.4

p.D927G

c.2780A>G

1 paper

NM_012465.4

p.V940D

c.2819T>A

1 paper

NM_012465.4

p.N911T

c.2732A>C

1 paper

NM_012465.4

p.E888_G890del0

c.2663_2668del6

2 papers

NM_012465.4

p.E975K

c.2923G>A

3 papers

NM_012465.4

p.E975D

c.2925A>T

3 papers

NM_012465.4

p.E975D

c.2925A>C

1 paper

NM_012465.4

p.Y977C

c.2930A>G

1 paper

NM_012465.4

p.R986*

c.2956C>T

1 paper

NM_012465.4

p.R988C

c.2962C>T

1 paper

NM_012465.4

p.A883T

c.2647G>A