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.A844A

c.2532C>T

Surrounding Variants

1 paper

NM_012465.4

p.P840P

c.2520G>A

1 paper

NM_012465.4

p.M836I

c.2508G>T

1 paper

NM_012465.4

p.M836I

c.2508G>C

1 paper

NM_012465.4

p.M836I

c.2508G>A

1 paper

NM_012465.4

p.E835K

c.2503G>A

1 paper

NM_012465.4

p.H833P

c.2498A>C

1 paper

NM_012465.4

p.D857N

c.2569G>A

1 paper

NM_012465.4

p.V860M

c.2578G>A

1 paper

NM_012465.4

p.H826Y

c.2476C>T

1 paper

NM_012465.4

p.S872L

c.2615C>T

2 papers

NM_012465.4

p.G880D

c.2639G>A

1 paper

NM_012465.4

p.A883T

c.2647G>A