Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.W1249_M1250del1

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.W1249_M1250del1
c.3747_3749delGAT
Surrounding Variants
3 papers
NM_000245.4
p.W1249*
c.3746G>A
3 papers
NM_000245.4
p.W1249*
c.3747G>A
1 paper
NM_000245.4
p.W1249C
c.3747G>C
1 paper
NM_000245.4
p.W1249C
c.3747G>T
1 paper
NM_000245.4
p.W1249R
c.3745T>A
1 paper
NM_000245.4
p.W1249R
c.3745T>C
1 paper
NM_000245.4
p.K1248N
c.3744G>C
1 paper
NM_000245.4
p.K1248N
c.3744G>T
1 paper
NM_000245.4
p.K1248T
c.3743A>C
13 papers
NM_000245.4
p.K1248R
c.3743A>G
112 papers
NM_000245.4
p.M1250T
c.3749T>C
NM_001127500.3
p.M1268T
c.3803T>C
3 papers
NM_000245.4
p.M1250I
c.3750G>A
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