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.M299I

c.897G>T

Surrounding Variants

1 paper

NM_012465.4

p.M299I

c.897G>C

1 paper

NM_012465.4

p.M299I

c.897G>A

2 papers

NM_012465.4

p.A302S

c.904G>T

1 paper

NM_012465.4

p.Q271E

c.811C>G

1 paper

NM_012465.4

p.H262Q

c.786T>A

1 paper

NM_012465.4

p.H252Y

c.754C>T

1 paper

NM_012465.4

p.W251C

c.753G>T

1 paper

NM_012465.4

p.W251C

c.753G>C

1 paper

NM_012465.4

p.E243Q

c.727G>C

1 paper

NM_012465.4

p.R210K

c.629G>A

1 paper

NM_012465.4

p.E202G

c.605A>G

1 paper

NM_012465.4

p.E201K

c.601G>A