Varaico: Literature-Extracted Genetic Variants

ADAMTS1

152 papers

RefSeq Summary

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

Pfam Domains

Pep_M12B_propepaa 51–130UCSCReprolysin family propeptide

Reprolysinaa 258–467UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 478–546UCSCADAMTS cysteine-rich domain 2

TSP_1aa 563–613UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 619–724UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 726–843UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

HGNC Alias Symbols

C3-C5; METH1; KIAA1346

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006988.5

p.R931delFs

c.2791delT

Surrounding Variants

1 paper

NM_006988.5

p.R931fs

c.2791_2792fs

1 paper

NM_006988.5

p.G915E

c.2744G>A

1 paper

NM_006988.5

p.C948R

c.2842T>C

1 paper

NM_006988.5

p.W912C

c.2736G>T

1 paper

NM_006988.5

p.W912C

c.2736G>C

1 paper

NM_006988.5

p.Q911H

c.2733G>T

1 paper

NM_006988.5

p.Q911H

c.2733G>C

1 paper

NM_006988.5

p.P910S

c.2728C>T

1 paper

NM_006988.5

p.K955Q

c.2863A>C

1 paper

NM_006988.5

p.P903L

c.2708C>T

1 paper

NM_006988.5

p.S900G

c.2698A>G

1 paper

NM_006988.5

p.A964V

c.2891C>T