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

Selected Variant

1 paper

NM_022475.3

p.R38S

c.114G>T

Surrounding Variants

1 paper

NM_022475.3

p.R38S

c.114G>C

1 paper

NM_022475.3

p.R38W

c.112A>T

1 paper

NM_022475.3

p.C39Y

c.116G>A

1 paper

NM_022475.3

p.R37fs

c.109_110fs

1 paper

NM_022475.3

p.R36fs

c.106_107fs

1 paper

NM_022475.3

p.N43fs

c.127_128fs

1 paper

NM_022475.3

p.G33E

c.98G>A

1 paper

NM_022475.3

p.P44R

c.131C>G

1 paper

NM_022475.3

p.G33fs

c.97_98fs

1 paper

NM_022475.3

p.G33delFs

c.98delG

1 paper

NM_022475.3

p.R47H

c.140G>A

1 paper

NM_022475.3

p.R47R

c.141C>A