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

1–12 of 219 variants

18 papers

NM_020998.4

p.R703C

c.2107C>T

15 papers

NM_020998.4

p.P19S

c.55C>T

10 papers

NM_020998.4

p.E261Q

c.781G>C

10 papers

NM_020998.4

p.R651*

c.1951C>T

8 papers

NM_020998.4

p.Q406_R407del2

c.1216_1220del6

7 papers

NM_020998.4

p.N256S

c.767A>G

7 papers

NM_020998.4

p.T294S

c.881C>G

6 papers

NM_020998.4

p.T294S

c.880A>T

5 papers

NM_020998.4

p.R108H

c.323G>A

5 papers

NM_020998.4

p.Q417Splc

c.1251-2A>C

5 papers

NM_020998.4

p.R493L

c.1478G>T

4 papers

NM_020998.4

p.Q49_H50delFs

c.146_150del5