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.E368K

c.1102G>A

Surrounding Variants

1 paper

NM_001528.4

p.E368*

c.1102G>T

1 paper

NM_001528.4

p.A356V

c.1067C>T

1 paper

NM_001528.4

p.A356T

c.1066G>A

1 paper

NM_001528.4

p.G331fs

c.991_992fs

1 paper

NM_001528.4

p.G331delFs

c.992delG

1 paper

NM_001528.4

p.S312F

c.935C>T

1 paper

NM_001528.4

p.P270S

c.808C>T

1 paper

NM_001528.4

p.T262A

c.784A>G

1 paper

NM_001528.4

p.P377P

c.1131G>A

2 papers

NM_001528.4

p.R407C

c.1219C>T

1 paper

NM_001528.4

p.G410R

c.1228G>C

1 paper

NM_001528.4

p.S435N

c.1304G>A