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

4 papers

NM_002152.3

p.E202delins

c.606delinsGGAA

Surrounding Variants

1 paper

NM_002152.3

p.E201_E202del1

c.603_605delTCC

1 paper

NM_002152.3

p.E202ins1

c.605_606insGGA

1 paper

NM_002152.3

p.E199_E200insFs

c.597_598insG

1 paper

NM_002152.3

p.E172*

c.514G>T

1 paper

NM_002152.3

p.D261ins1

c.781_782insATG

1 paper

NM_002152.3

p.V262ins3

c.784_785ins9

1 paper

NM_002152.3

p.T142T

c.426G>A

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.D115V

c.344A>T

1 paper

NM_002152.3

p.S294R

c.882C>A

1 paper

NM_002152.3

p.R298*

c.892C>T