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.V480M

c.1438G>A

Surrounding Variants

1 paper

NM_001127258.3

p.V480L

c.1438G>C

1 paper

NM_001127258.3

p.V480L

c.1438G>T

1 paper

NM_001127258.3

p.R482W

c.1444C>T

1 paper

NM_001127258.3

p.P463P

c.1389G>A

1 paper

NM_001127258.3

p.T456T

c.1368C>T

1 paper

NM_001127258.3

p.V420M

c.1258G>A

1 paper

NM_001127258.3

p.R412C

c.1234C>T

1 paper

NM_001127258.3

p.R398C

c.1192C>T

1 paper

NM_001127258.3

p.Y389S

c.1166A>C

1 paper

NM_001127258.3

p.P386L

c.1157C>T

1 paper

NM_001127258.3

p.R363G

c.1087C>G

1 paper

NM_001127258.3

p.D360N

c.1078G>A