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.M1T

c.2T>C

Surrounding Variants

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

1 paper

NM_022475.3

p.G21fs

c.61_62fs

1 paper

NM_022475.3

p.G21V

c.62G>T

1 paper

NM_022475.3

p.E27A

c.80A>C

1 paper

NM_022475.3

p.R28K

c.83G>A

1 paper

NM_022475.3

p.G33delFs

c.98delG

1 paper

NM_022475.3

p.G33fs

c.97_98fs