Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.I1130del1

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
3 papers
NM_000245.4
p.I1130del1
c.3388_3389delATC
Surrounding Variants
1 paper
NM_000245.4
p.G1128E
c.3383G>A
5 papers
NM_000245.4
p.G1128A
c.3383G>C
1 paper
NM_000245.4
p.G1128R
c.3382G>A
1 paper
NM_000245.4
p.G1128R
c.3382G>C
1 paper
NM_000245.4
p.I1129N
c.3386T>A
1 paper
NM_000245.4
p.E1127D
c.3381G>C
1 paper
NM_000245.4
p.E1127D
c.3381G>T
1 paper
NM_000245.4
p.E1127G
c.3380A>G
2 papers
NM_000245.4
p.E1127K
c.3379G>A
1 paper
NM_000245.4
p.E1127Q
c.3379G>C
1 paper
NM_000245.4
p.E1127*
c.3379G>T
2 papers
NM_000245.4
p.I1130T
c.3389T>C
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