Varaico: Literature-Extracted Genetic Variants

Gene:HGF
Variant:p.S228L

HGF

827 papers

RefSeq Summary

This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results...

Pfam Domains

PAN_1aa 40–124UCSCPAN domain
Kringleaa 128–206UCSCKringle domain
Kringleaa 128–206UCSCKringle domain
Kringleaa 211–288UCSCKringle domain
Kringleaa 305–383UCSCKringle domain
Kringleaa 391–469UCSCKringle domain

Gene Aliases

HGNC Name

hepatocyte growth factor

HGNC Previous Symbol

DFNB39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000601.6
p.S228L
c.683C>T
Surrounding Variants
5 papers
NM_000601.6
p.S228A
c.682T>G
2 papers
NM_000601.6
p.E227K
c.679G>A
1 paper
NM_000601.6
p.K230Q
c.688A>C
1 paper
NM_000601.6
p.T226I
c.677C>T
1 paper
NM_000601.6
p.K230R
c.689A>G
1 paper
NM_000601.6
p.K230T
c.689A>C
1 paper
NM_000601.6
p.K230N
c.690G>T
1 paper
NM_000601.6
p.K230N
c.690G>C
1 paper
NM_000601.6
p.T226S
c.676A>T
1 paper
NM_000601.6
p.H225insFs
c.673dupC
1 paper
NM_000601.6
p.C232C
c.696T>C
1 paper
NM_000601.6
p.D224Y
c.670G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."