Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.N399H

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.N399H
c.1195A>C
Surrounding Variants
1 paper
NM_000245.4
p.N399I
c.1196A>T
1 paper
NM_000245.4
p.F398L
c.1194T>A
1 paper
NM_000245.4
p.F398L
c.1194T>G
1 paper
NM_000245.4
p.F398L
c.1192T>C
1 paper
NM_000245.4
p.C397Y
c.1190G>A
2 papers
NM_000245.4
p.R400S
c.1200G>C
2 papers
NM_000245.4
p.R400S
c.1200G>T
1 paper
NM_000245.4
p.R400_T401Splc
c.1200+1G>A
1 paper
NM_000245.4
p.R400_T401Splc
c.1200+2T>C
2 papers
NM_000245.4
p.H396P
c.1187A>C
3 papers
NM_000245.4
p.H396R
c.1187A>G
1 paper
NM_000245.4
p.E395D
c.1185G>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."