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.R148Q

c.443G>A

Surrounding Variants

1 paper

NM_012465.4

p.R148G

c.442C>G

1 paper

NM_012465.4

p.K141T

c.422A>C

1 paper

NM_012465.4

p.E156fs

c.466_467fs

1 paper

NM_012465.4

p.A139T

c.415G>A

1 paper

NM_012465.4

p.P160T

c.478C>A

1 paper

NM_012465.4

p.I164fs

c.490_491fs

1 paper

NM_012465.4

p.Q176Q

c.528G>A

1 paper

NM_012465.4

p.T199T

c.597G>A

1 paper

NM_012465.4

p.E201K

c.601G>A

1 paper

NM_012465.4

p.E202G

c.605A>G

1 paper

NM_012465.4

p.R210K

c.629G>A