Varaico: Literature-Extracted Genetic Variants

HGFAC

87 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoprot...

Pfam Domains

fn2aa 108–148UCSCFibronectin type II domain

EGFaa 164–196UCSCEGF-like domain

EGFaa 245–277UCSCEGF-like domain

Kringleaa 286–367UCSCKringle domain

Trypsinaa 408–641UCSCTrypsin

Gene Aliases

HGNC Name

HGF activator

HGNC Alias Symbols

HGFAP; HGFA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001528.4

p.S166_G167insFs

c.498_499insC

Surrounding Variants

1 paper

NM_001528.4

p.C164S

c.491G>C

1 paper

NM_001528.4

p.C164S

c.490T>A

1 paper

NM_001528.4

p.P163L

c.488C>T

2 papers

NM_001528.4

p.P163fs

c.487_488fs

2 papers

NM_001528.4

p.P163delFs

c.487delC

1 paper

NM_001528.4

p.L170I

c.508C>A

1 paper

NM_001528.4

p.D162Y

c.484G>T

1 paper

NM_001528.4

p.A160_A165delFs

c.480_495del16

1 paper

NM_001528.4

p.G172E

c.515G>A

1 paper

NM_001528.4

p.H185Y

c.553C>T

1 paper

NM_001528.4

p.H185R

c.554A>G

3 papers

NM_001528.4

p.R190W

c.568C>T