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.R241*

c.721C>T

Surrounding Variants

2 papers

NM_001528.4

p.C237W

c.711C>G

2 papers

NM_001528.4

p.F231L

c.693C>A

2 papers

NM_001528.4

p.F231L

c.693C>G

2 papers

NM_001528.4

p.F231L

c.691T>C

1 paper

NM_001528.4

p.F231fs

c.691_692fs

5 papers

NM_001528.4

p.A218S

c.652G>T

3 papers

NM_001528.4

p.G214C

c.640G>T

1 paper

NM_001528.4

p.G213G

c.639G>A

1 paper

NM_001528.4

p.T262A

c.784A>G

1 paper

NM_001528.4

p.P270S

c.808C>T

1 paper

NM_001528.4

p.E200Q

c.598G>C

1 paper

NM_001528.4

p.A191S

c.571G>T