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

2 papers

NM_020998.4

p.P416L

c.1247C>T

Surrounding Variants

1 paper

NM_020998.4

p.C405_R407del3

c.1213_1220del9

8 papers

NM_020998.4

p.Q406_R407del2

c.1216_1220del6

2 papers

NM_020998.4

p.R407C

c.1219C>T

1 paper

NM_020998.4

p.R400L

c.1199G>T

1 paper

NM_020998.4

p.G389G

c.1167G>A

1 paper

NM_020998.4

p.A388A

c.1164A>G

5 papers

NM_020998.4

p.Q417Splc

c.1251-2A>C

1 paper

NM_020998.4

p.E423K

c.1267G>A

1 paper

NM_020998.4

p.H425H

c.1275T>C

1 paper

NM_020998.4

p.E430E

c.1290G>A

1 paper

NM_020998.4

p.E430del1

c.1288_1289delCTC

1 paper

NM_020998.4

p.N435fs

c.1303_1304fs