Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.S990R

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.S990R
c.2970C>A
Surrounding Variants
1 paper
NM_000245.4
p.S990R
c.2970C>G
13 papers
NM_000245.4
p.P991S
c.2971C>T
NM_001127500.3
p.P1009S
c.3025C>T
1 paper
NM_001127500.3
p.S1008N
c.3023G>A
1 paper
NM_001127500.3
p.S1008_T1010delFs
c.3024_3028del5
1 paper
NM_000245.4
p.S990fs
c.2968_2969fs
1 paper
NM_000245.4
p.S990R
c.2968A>C
1 paper
NM_000245.4
p.P991L
c.2972C>T
1 paper
NM_001127500.3
p.T1010delFs
c.3028delA
1 paper
NM_000245.4
p.P991P
c.2973A>T
2 papers
NM_000245.4
p.V989_T992delins
c.2967_2976delinsGGCAGTCCAA
3 papers
NM_000245.4
p.T992A
c.2974A>G
1 paper
NM_001127500.3
p.V1007_E1012delFs
c.3021_3036del16
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