Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.Q53H

MET

3,492 papers

RefSeq Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and be...

Pfam Domains

Semaaa 317–493UCSCSema domain
PSIaa 519–562UCSCPlexin repeat
TIGaa 563–654UCSCIPT/TIG domain
TIGaa 657–739UCSCIPT/TIG domain
TIGaa 742–830UCSCIPT/TIG domain
PK_Tyr_Ser-Thraa 1078–1337UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

MET proto-oncogene, receptor tyrosine kinase

HGNC Alias Symbols

HGFR; RCCP2; DFNB97

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000245.4
p.Q53H
c.159G>C
Surrounding Variants
1 paper
NM_000245.4
p.Q53Q
c.159G>A
1 paper
NM_000245.4
p.Q53H
c.159G>T
1 paper
NM_000245.4
p.N54D
c.160A>G
1 paper
NM_000245.4
p.N54I
c.161A>T
2 papers
NM_000245.4
p.Q53*
c.157C>T
1 paper
NM_000245.4
p.V55I
c.163G>A
1 paper
NM_000245.4
p.I52N
c.155T>A
2 papers
NM_000245.4
p.I52F
c.154A>T
1 paper
NM_000245.4
p.V55D
c.164T>A
2 papers
NM_000245.4
p.P51P
c.153C>A
1 paper
NM_000245.4
p.I56V
c.166A>G
1 paper
NM_000245.4
p.I56F
c.166A>T
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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."