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.V499A

c.1496T>C

Surrounding Variants

5 papers

NM_020998.4

p.R493L

c.1478G>T

1 paper

NM_020998.4

p.R513W

c.1537C>T

2 papers

NM_020998.4

p.R513G

c.1537C>G

2 papers

NM_020998.4

p.D475fs

c.1423_1424fs

3 papers

NM_020998.4

p.D475Splc

c.1423+2T>A

2 papers

NM_020998.4

p.P474insFs

c.1421_1422insCC

2 papers

NM_020998.4

p.D472_P473ins1

c.1416_1417insCCC

1 paper

NM_020998.4

p.P474fs

c.1420_1421fs

1 paper

NM_020998.4

p.P467L

c.1400C>T

2 papers

NM_020998.4

p.G522A

c.1565G>C

1 paper

NM_020998.4

p.G522E

c.1565G>A

2 papers

NM_020998.4

p.T533S

c.1597A>T