Varaico: Literature-Extracted Genetic Variants

HRC

60 papers

RefSeq Summary

This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, t...

Pfam Domains

Hist_rich_Ca-bdaa 214–228UCSCHistidine-rich Calcium-binding repeat region

Hist_rich_Ca-bdaa 238–252UCSCHistidine-rich Calcium-binding repeat region

Hist_rich_Ca-bdaa 271–285UCSCHistidine-rich Calcium-binding repeat region

Hist_rich_Ca-bdaa 295–309UCSCHistidine-rich Calcium-binding repeat region

Hist_rich_Ca-bdaa 319–333UCSCHistidine-rich Calcium-binding repeat region

Hist_rich_Ca-bdaa 343–358UCSCHistidine-rich Calcium-binding repeat region

Gene Aliases

HGNC Name

histidine rich calcium binding protein

HGNC Alias Symbol

MGC133236

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002152.3

p.S294R

c.882C>A

Surrounding Variants

1 paper

NM_002152.3

p.R298*

c.892C>T

1 paper

NM_002152.3

p.N305insFs

c.913_914insTG

1 paper

NM_002152.3

p.G277R

c.829G>C

1 paper

NM_002152.3

p.G277R

c.829G>A

1 paper

NM_002152.3

p.Q322R

c.965A>G

1 paper

NM_002152.3

p.D323G

c.968A>G

1 paper

NM_002152.3

p.V262ins3

c.784_785ins9

1 paper

NM_002152.3

p.D261ins1

c.781_782insATG

1 paper

NM_002152.3

p.H337delFs

c.1009delG

1 paper

NM_002152.3

p.H337Q

c.1011C>G

1 paper

NM_002152.3

p.H337Q

c.1011C>A

1 paper

NM_002152.3

p.P341T

c.1021C>A