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

1–12 of 47 variants

11 papers

NM_002152.3

p.S96A

c.286T>G

4 papers

NM_002152.3

p.E202delins

c.606delinsGGAA

2 papers

NM_002152.3

p.G36D

c.107G>A

2 papers

NM_002152.3

p.N42D

c.124A>G

2 papers

NM_002152.3

p.N42T

c.125A>C

1 paper

NM_002152.3

p.P6L

c.17C>T

1 paper

NM_002152.3

p.H9fs

c.25_26fs

1 paper

NM_002152.3

p.V17V

c.51G>A

1 paper

NM_002152.3

p.L35L

c.105A>G

1 paper

NM_002152.3

p.S43N

c.128G>A

1 paper

NM_002152.3

p.S43S

c.129C>T

1 paper

NM_002152.3

p.D66N

c.196G>A