Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.V996I

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.V996I
c.2986G>A
Surrounding Variants
3 papers
NM_000245.4
p.S997_F1007del0
c.2990_3019del30
2 papers
NM_000245.4
p.M995_D1010delFs
c.2983_3028del46
1 paper
NM_000245.4
p.N998H
c.2992A>C
2 papers
NM_000245.4
p.E994K
c.2980G>A
1 paper
NM_000245.4
p.M995_N998delFs
c.2983_2993del11
2 papers
NM_000245.4
p.N998_Y1003delins
c.2993_3008delinsG
1 paper
NM_000245.4
p.E999_P1008del0
c.2995_3024del30
3 papers
NM_000245.4
p.T993A
c.2977A>G
1 paper
NM_000245.4
p.T993_R1004del0
c.2978_3010del33
1 paper
NM_000245.4
p.E999K
c.2995G>A
1 paper
NM_000245.4
p.E999*
c.2995G>T
1 paper
NM_000245.4
p.E999D
c.2997A>C
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