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.Y184F

c.551A>T

Surrounding Variants

2 papers

NM_020998.4

p.Y184S

c.551A>C

1 paper

NM_020998.4

p.T186fs

c.556_557fs

1 paper

NM_020998.4

p.P181S

c.541C>T

1 paper

NM_020998.4

p.V190G

c.569T>G

2 papers

NM_020998.4

p.V190A

c.569T>C

1 paper

NM_020998.4

p.R191H

c.572G>A

1 paper

NM_020998.4

p.D177V

c.530A>T

1 paper

NM_020998.4

p.D175Y

c.523G>T

1 paper

NM_020998.4

p.P174insFs

c.521dupC

1 paper

NM_020998.4

p.R172H

c.515G>A

1 paper

NM_020998.4

p.R172C

c.514C>T

1 paper

NM_020998.4

p.T186_K198delFs

c.557_593del37