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

1 paper

NM_001127258.3

p.V175G

c.524T>G

Surrounding Variants

1 paper

NM_001127258.3

p.R194H

c.581G>A

1 paper

NM_001127258.3

p.T154T

c.462G>A

1 paper

NM_001127258.3

p.T154M

c.461C>T

1 paper

NM_001127258.3

p.D153N

c.457G>A

1 paper

NM_001127258.3

p.A202V

c.605C>T

1 paper

NM_001127258.3

p.R127C

c.379C>T

1 paper

NM_001127258.3

p.R123Q

c.368G>A

1 paper

NM_001127258.3

p.R237W

c.709C>T

1 paper

NM_001127258.3

p.L104P

c.311T>C

1 paper

NM_001127258.3

p.S271P

c.811T>C

1 paper

NM_001127258.3

p.R275C

c.823C>T

1 paper

NM_001127258.3

p.R275H

c.824G>A