Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.D1228H

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
82 papers
NM_000245.4
p.D1228H
c.3682G>C
NM_001127500.3
p.D1246H
c.3736G>C
Surrounding Variants
114 papers
NM_000245.4
p.D1228N
c.3682G>A
NM_001127500.3
p.D1246N
c.3736G>A
14 papers
NM_000245.4
p.D1228Y
c.3682G>T
10 papers
NM_000245.4
p.D1228A
c.3683A>C
1 paper
NM_000245.4
p.R1227S
c.3681A>C
5 papers
NM_000245.4
p.D1228G
c.3683A>G
48 papers
NM_000245.4
p.D1228V
c.3683A>T
NM_001127500.3
p.D1246V
c.3737A>T
1 paper
NM_000245.4
p.R1227S
c.3681A>T
6 papers
NM_000245.4
p.D1228E
c.3684C>A
6 papers
NM_000245.4
p.D1228E
c.3684C>G
3 papers
NM_000245.4
p.R1227K
c.3680G>A
1 paper
NM_000245.4
p.R1227T
c.3680G>C
1 paper
NM_000245.4
p.R1227I
c.3680G>T
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