Varaico: Literature-Extracted Genetic Variants

HHIPL1

51 papers

RefSeq Summary

This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by Re...

Pfam Domains

Folate_recaa 22–183UCSCFolate receptor family

GSDHaa 193–526UCSCGlucose / Sorbosone dehydrogenase

SRCRaa 679–776UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

HHIP like 1

HGNC Previous Symbol

KIAA1822

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001127258.3

p.V692A

c.2075T>C

Surrounding Variants

1 paper

NM_001127258.3

p.V699M

c.2095G>A

1 paper

NM_001127258.3

p.A664A

c.1992G>A

1 paper

NM_001127258.3

p.L736P

c.2207T>C

1 paper

NM_001127258.3

p.N751K

c.2253C>A

1 paper

NM_001127258.3

p.N751K

c.2253C>G

1 paper

NM_001127258.3

p.E766K

c.2296G>A

1 paper

NM_001127258.3

p.A618E

c.1853C>A

1 paper

NM_001127258.3

p.R577Splc

c.1731-165G>A

1 paper

NM_001127258.3

p.G567R

c.1699G>A

1 paper

NM_001127258.3

p.G567R

c.1699G>C

1 paper

NM_001127258.3

p.G558E

c.1673G>A

1 paper

NM_001127258.3

p.G550Splc

c.1649-350C>T