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.G516R

c.1546G>A

Surrounding Variants

1 paper

NM_022475.3

p.G516R

c.1546G>C

1 paper

NM_022475.3

p.V510_F511insFs

c.1530_1531insC

1 paper

NM_022475.3

p.V510M

c.1528G>A

1 paper

NM_022475.3

p.G507E

c.1520G>A

1 paper

NM_022475.3

p.S502_E503insT

c.1504_1508ins3

1 paper

NM_022475.3

p.L480R

c.1439T>G

1 paper

NM_022475.3

p.E475G

c.1424A>G

1 paper

NM_022475.3

p.E475Splc

c.1424-1G>A

1 paper

NM_022475.3

p.P525H

c.1574C>A

1 paper

NM_022475.3

p.P525L

c.1574C>T

2 papers

NM_022475.3

p.G549S

c.1645G>A

1 paper

NM_022475.3

p.E558D

c.1674A>C