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.L24del1

c.70_72delCTG

Surrounding Variants

1 paper

NM_001528.4

p.L21P

c.62T>C

1 paper

NM_001528.4

p.L26Q

c.77T>A

1 paper

NM_001528.4

p.G32W

c.94G>T

1 paper

NM_001528.4

p.F33Y

c.98T>A

1 paper

NM_001528.4

p.P37R

c.110C>G

1 paper

NM_001528.4

p.P8delFs

c.24delC

1 paper

NM_001528.4

p.M1T

c.2T>C

1 paper

NM_001528.4

p.E46Q

c.136G>C

1 paper

NM_001528.4

p.A51V

c.152C>T

1 paper

NM_001528.4

p.A54V

c.161C>T

1 paper

NM_001528.4

p.T61N

c.182C>A

1 paper

NM_001528.4

p.T70_A72del3

c.208_215del9