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.E574D

c.1722G>C

Surrounding Variants

1 paper

NM_002152.3

p.E574D

c.1722G>T

1 paper

NM_002152.3

p.E575_G576del1

c.1724_1726delCCT

1 paper

NM_002152.3

p.S567G

c.1699A>G

1 paper

NM_002152.3

p.E545_E546del1

c.1635_1637delTCC

1 paper

NM_002152.3

p.G611Splc

c.1831+1G>T

1 paper

NM_002152.3

p.G611Splc

c.1831+1G>A

1 paper

NM_002152.3

p.D521G

c.1562A>G

1 paper

NM_002152.3

p.C627delFs

c.1879delA

1 paper

NM_002152.3

p.E496D

c.1488G>C

1 paper

NM_002152.3

p.G493S

c.1477G>A

1 paper

NM_002152.3

p.S401G

c.1201A>G

1 paper

NM_002152.3

p.E376*

c.1126G>T