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

3 papers

NM_012465.4

p.R333Q

c.998G>A

Surrounding Variants

1 paper

NM_012465.4

p.R331C

c.991C>T

1 paper

NM_012465.4

p.V324I

c.970G>A

1 paper

NM_012465.4

p.N322D

c.964A>G

1 paper

NM_012465.4

p.A350V

c.1049C>T

1 paper

NM_012465.4

p.V378F

c.1132G>T

1 paper

NM_012465.4

p.P385T

c.1153C>A

1 paper

NM_012465.4

p.K388R

c.1163A>G

1 paper

NM_012465.4

p.K388N

c.1164G>T

1 paper

NM_012465.4

p.K388N

c.1164G>C

2 papers

NM_012465.4

p.A302S

c.904G>T

1 paper

NM_012465.4

p.M299I

c.897G>T

1 paper

NM_012465.4

p.M299I

c.897G>C