Varaico: Literature-Extracted Genetic Variants

ADAMTS2

284 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 58–162UCSCReprolysin family propeptide

Reprolysinaa 266–470UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 482–551UCSCADAMTS cysteine-rich domain 2

TSP_1aa 564–615UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 620–722UCSCADAMTS cysteine-rich domain

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 2

HGNC Alias Symbols

ADAMTS-3; hPCPNI; PCINP; ADAM-TS2; NPI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014244.5

p.R978S

c.2932C>A

Surrounding Variants

1 paper

NM_014244.5

p.R978H

c.2933G>A

3 papers

NM_014244.5

p.P976delFs

c.2927_2928delAG

3 papers

NM_014244.5

p.P976fs

c.2926_2927fs

1 paper

NM_014244.5

p.R980Q

c.2939G>A

1 paper

NM_014244.5

p.E973K

c.2917G>A

1 paper

NM_014244.5

p.R972R

c.2916C>T

2 papers

NM_014244.5

p.R972S

c.2914C>A

1 paper

NM_014244.5

p.W984*

c.2951G>A

1 paper

NM_014244.5

p.Q986*

c.2956C>T

1 paper

NM_014244.5

p.R968Q

c.2903G>A

1 paper

NM_014244.5

p.R968W

c.2902C>T

2 papers

NM_014244.5

p.S966N

c.2897G>A