Varaico: Literature-Extracted Genetic Variants

HHIP

142 papers

RefSeq Summary

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of develo...

Pfam Domains

Folate_recaa 38–220UCSCFolate receptor family

GSDHaa 226–445UCSCGlucose / Sorbosone dehydrogenase

EGF_2aa 638–666UCSCEGF-like domain

Gene Aliases

HGNC Name

hedgehog interacting protein

HGNC Alias Symbol

FLJ20992

Papers

RefSeq ID

Protein change

DNA change

1–12 of 139 variants

3 papers

NM_022475.3

p.V326I

c.976G>A

2 papers

NM_022475.3

p.V334I

c.1000G>A

2 papers

NM_022475.3

p.H430H

c.1290C>T

2 papers

NM_022475.3

p.G549S

c.1645G>A

2 papers

NM_022475.3

p.P588S

c.1762C>T

1 paper

NM_022475.3

p.M1T

c.2T>C

1 paper

NM_022475.3

p.L12ins0

c.34_36dupCTG

1 paper

NM_022475.3

p.L10L

c.30G>A

1 paper

NM_022475.3

p.L11Q

c.32T>A

1 paper

NM_022475.3

p.V14E

c.41T>A

1 paper

NM_022475.3

p.G17S

c.49G>A

1 paper

NM_022475.3

p.F18V

c.52T>G