Varaico: Literature-Extracted Genetic Variants

MST1

307 papers

RefSeq Summary

The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the enc...

Pfam Domains

PAN_1aa 30–120UCSCPAN domain

Kringleaa 124–200UCSCKringle domain

Kringleaa 205–282UCSCKringle domain

Kringleaa 297–375UCSCKringle domain

Kringleaa 384–462UCSCKringle domain

Trypsinaa 498–718UCSCTrypsin

Gene Aliases

HGNC Name

macrophage stimulating 1

HGNC Previous Symbols

D3F15S2; HGFL; DNF15S2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020998.4

p.G315delFs

c.944delC

Surrounding Variants

1 paper

NM_020998.4

p.G315fs

c.943_944fs

1 paper

NM_020998.4

p.V316L

c.946G>T

1 paper

NM_020998.4

p.V316L

c.946G>C

2 papers

NM_020998.4

p.T313T

c.939T>C

1 paper

NM_020998.4

p.P326A

c.976C>G

1 paper

NM_020998.4

p.P326L

c.977C>T

1 paper

NM_020998.4

p.P326P

c.978G>T

1 paper

NM_020998.4

p.G304fs

c.910_911fs

1 paper

NM_020998.4

p.E303K

c.907G>A

1 paper

NM_020998.4

p.Q328H

c.984G>T

1 paper

NM_020998.4

p.Q328H

c.984G>C

1 paper

NM_020998.4

p.H327_H329delFs

c.980_986del7