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.A6V

c.17C>T

Surrounding Variants

1 paper

NM_012465.4

p.P2H

c.5C>A

1 paper

NM_012465.4

p.M1K

c.2T>A

1 paper

NM_012465.4

p.S37S

c.111A>G

1 paper

NM_012465.4

p.E38Q

c.112G>C

1 paper

NM_012465.4

p.A58V

c.173C>T