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.P559Q

c.1676C>A

Surrounding Variants

1 paper

NM_020998.4

p.T546delFs

c.1637delG

2 papers

NM_020998.4

p.T546M

c.1637C>T

1 paper

NM_020998.4

p.R535fs

c.1603_1604fs

2 papers

NM_020998.4

p.R535delFs

c.1603delG

1 paper

NM_020998.4

p.A599T

c.1795G>A

1 paper

NM_020998.4

p.V598delFs

c.1793_1794delCA

1 paper

NM_020998.4

p.R535fs

c.1603_1604fs

4 papers

NM_020998.4

p.R535G

c.1603C>G

3 papers

NM_020998.4

p.T533S

c.1598C>G

2 papers

NM_020998.4

p.T533S

c.1597A>T

1 paper

NM_020998.4

p.T533A

c.1597A>G

1 paper

NM_020998.4

p.W607*

c.1820G>A