Varaico: Literature-Extracted Genetic Variants

HABP2

176 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that fo...

Pfam Domains

EGFaa 77–107UCSCEGF-like domain

EGFaa 154–186UCSCEGF-like domain

Kringleaa 194–276UCSCKringle domain

Trypsinaa 314–550UCSCTrypsin

Gene Aliases

HGNC Name

hyaluronan binding protein 2

HGNC Alias Symbols

PHBP; HGFAL; FSAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_004132.5

p.E393Q

c.1177G>C

Surrounding Variants

1 paper

NM_004132.5

p.V392_E393del1

c.1176_1178delGGA

1 paper

NM_004132.5

p.S399G

c.1195A>G

1 paper

NM_004132.5

p.H386Fs

c.1158delinsTGAGCFs

1 paper

NM_004132.5

p.E403delFs

c.1209delA

1 paper

NM_004132.5

p.L380R

c.1139T>G

1 paper

NM_004132.5

p.R369*

c.1105A>T

2 papers

NM_004132.5

p.V420M

c.1258G>A

1 paper

NM_004132.5

p.G439W

c.1315G>T

1 paper

NM_004132.5

p.E446K

c.1336G>A

1 paper

NM_004132.5

p.D365Y

c.1093G>T

1 paper

NM_004132.5

p.A360Fs

c.1080delinsTGAGCFs

1 paper

NM_004132.5

p.V357M

c.1069G>A