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.M379I

c.1137G>T

Surrounding Variants

1 paper

NM_022475.3

p.M379I

c.1137G>A

1 paper

NM_022475.3

p.M379I

c.1137G>C

1 paper

NM_022475.3

p.E380*

c.1138G>T

1 paper

NM_022475.3

p.E380A

c.1139A>C

1 paper

NM_022475.3

p.D378A

c.1133A>C

1 paper

NM_022475.3

p.E381A

c.1142A>C

1 paper

NM_022475.3

p.D383A

c.1148A>C

1 paper

NM_022475.3

p.G363V

c.1088G>T

1 paper

NM_022475.3

p.G360G

c.1080C>T

1 paper

NM_022475.3

p.F359S

c.1076T>C

1 paper

NM_022475.3

p.R350K

c.1049G>A

1 paper

NM_022475.3

p.L348F

c.1042C>T