Varaico: Literature-Extracted Genetic Variants

Gene:MST1R
Variant:p.Y249H

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.Y249H
c.745T>C
Surrounding Variants
1 paper
NM_002447.4
p.V250M
c.748G>A
1 paper
NM_002447.4
p.T255A
c.763A>G
2 papers
NM_002447.4
p.P239S
c.715C>T
1 paper
NM_002447.4
p.L235W
c.704T>G
1 paper
NM_002447.4
p.L235S
c.704T>C
1 paper
NM_002447.4
p.L235*
c.704T>A
1 paper
NM_002447.4
p.A234A
c.702G>T
1 paper
NM_002447.4
p.A234A
c.702G>A
1 paper
NM_002447.4
p.V233fs
c.697_698fs
1 paper
NM_002447.4
p.F232insFs
c.696dupT
1 paper
NM_002447.4
p.V233fs
c.697_698fs
1 paper
NM_002447.4
p.F232F
c.696T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."