Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.D1249A

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_001127500.3
p.D1249A
c.3746A>C
NM_000245.4
p.D1231A
c.3692A>C
Surrounding Variants
4 papers
NM_000245.4
p.D1231N
c.3691G>A
11 papers
NM_000245.4
p.D1231Y
c.3691G>T
2 papers
NM_001127500.3
p.D1249E
c.3747T>A
2 papers
NM_001127500.3
p.D1249E
c.3747T>G
1 paper
NM_000245.4
p.K1232E
c.3694A>G
1 paper
NM_000245.4
p.K1232*
c.3694A>T
18 papers
NM_000245.4
p.Y1230*
c.3690T>A
18 papers
NM_000245.4
p.Y1230*
c.3690T>G
17 papers
NM_000245.4
p.Y1230S
c.3689A>C
1 paper
NM_000245.4
p.K1232T
c.3695A>C
110 papers
NM_000245.4
p.Y1230C
c.3689A>G
NM_001127500.3
p.Y1248C
c.3743A>G
1 paper
NM_000245.4
p.K1232R
c.3695A>G
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