Varaico: Literature-Extracted Genetic Variants

MST1R

329 papers

RefSeq Summary

This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta su...

Pfam Domains

Semaaa 321–504UCSCSema domain

PSIaa 526–568UCSCPlexin repeat

TIGaa 569–674UCSCIPT/TIG domain

TIGaa 684–766UCSCIPT/TIG domain

TIGaa 770–859UCSCIPT/TIG domain

PK_Tyr_Ser-Thraa 1082–1341UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

macrophage stimulating 1 receptor

HGNC Previous Symbols

RON; PTK8; SEA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002447.4

p.Y482C

c.1445A>G

Surrounding Variants

1 paper

NM_002447.4

p.L484L

c.1452G>A

1 paper

NM_002447.4

p.Y485C

c.1454A>G

1 paper

NM_002447.4

p.Q473_V474Splc

c.1420-1G>A

1 paper

NM_002447.4

p.S494delFs

c.1480_1481delCT

2 papers

NM_002447.4

p.R504C

c.1510C>T

1 paper

NM_002447.4

p.R504H

c.1511G>A

1 paper

NM_002447.4

p.H508Y

c.1522C>T

1 paper

NM_002447.4

p.L509Q

c.1526T>A

1 paper

NM_002447.4

p.S513_G514insTGA

c.1537_1541ins9

1 paper

NM_002447.4

p.S513_G514ins6

c.1537_1541ins18

1 paper

NM_002447.4

p.D515Y

c.1543G>T

2 papers

NM_002447.4

p.Q516H

c.1548G>T