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.T418A

c.1252A>G

Surrounding Variants

1 paper

NM_022475.3

p.F415L

c.1245C>A

1 paper

NM_022475.3

p.F415L

c.1245C>G

1 paper

NM_022475.3

p.F415L

c.1243T>C

1 paper

NM_022475.3

p.P422fs

c.1264_1265fs

1 paper

NM_022475.3

p.E423K

c.1267G>A

1 paper

NM_022475.3

p.G428W

c.1282G>T

1 paper

NM_022475.3

p.S407insFs

c.1220_1221insT

2 papers

NM_022475.3

p.H430H

c.1290C>T

1 paper

NM_022475.3

p.P405T

c.1213C>A

1 paper

NM_022475.3

p.D431N

c.1291G>A

1 paper

NM_022475.3

p.R434G

c.1300A>G

1 paper

NM_022475.3

p.M401R

c.1202T>G