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.A593T

c.1777G>A

Surrounding Variants

1 paper

NM_001528.4

p.K566R

c.1697A>G

1 paper

NM_001528.4

p.E545D

c.1635G>C

1 paper

NM_001528.4

p.E545D

c.1635G>T

1 paper

NM_001528.4

p.D544E

c.1632T>A

1 paper

NM_001528.4

p.D544D

c.1632T>C

1 paper

NM_001528.4

p.D544E

c.1632T>G

1 paper

NM_001528.4

p.R513H

c.1538G>A

3 papers

NM_001528.4

p.R509H

c.1526G>A

1 paper

NM_001528.4

p.D497N

c.1489G>A

1 paper

NM_001528.4

p.E480_D495del16

c.1438_1484del48

1 paper

NM_001528.4

p.V460M

c.1378G>A

1 paper

NM_001528.4

p.S459F

c.1376C>T