Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.E312D

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.E312D
c.936A>T
Surrounding Variants
1 paper
NM_000245.4
p.V313L
c.937G>T
1 paper
NM_000245.4
p.E312K
c.934G>A
1 paper
NM_000245.4
p.F314L
c.940T>C
1 paper
NM_000245.4
p.F314L
c.942T>A
1 paper
NM_000245.4
p.F314L
c.942T>G
3 papers
NM_000245.4
p.N315S
c.944A>G
1 paper
NM_000245.4
p.T309I
c.926C>T
4 papers
NM_000245.4
p.I316M
c.948A>G
2 papers
NM_000245.4
p.L317I
c.949C>A
2 papers
NM_000245.4
p.L317P
c.950T>C
1 paper
NM_000245.4
p.Q318K
c.952C>A
1 paper
NM_000245.4
p.Q318*
c.952C>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."