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.E461A

c.1382A>C

Surrounding Variants

1 paper

NM_012465.4

p.E461K

c.1381G>A

1 paper

NM_012465.4

p.E461delins

c.1382_1383delinsCT

1 paper

NM_012465.4

p.G453V

c.1358G>T

1 paper

NM_012465.4

p.N450_I451ins0

c.1349_1351dupACA

2 papers

NM_012465.4

p.R440L

c.1319G>T

1 paper

NM_012465.4

p.D438N

c.1312G>A

2 papers

NM_012465.4

p.P431L

c.1292C>T

2 papers

NM_012465.4

p.T495M

c.1484C>T

1 paper

NM_012465.4

p.R513S

c.1539G>T

1 paper

NM_012465.4

p.R513S

c.1539G>C

2 papers

NM_012465.4

p.H514R

c.1541A>G

1 paper

NM_012465.4

p.E531A

c.1592A>C