Varaico: Literature-Extracted Genetic Variants

C1R

141 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate ...

Pfam Domains

CUBaa 20–131UCSCCUB domain

FXa_inhibitionaa 155–189UCSCCoagulation Factor Xa inhibitory site

CUBaa 193–302UCSCCUB domain

Sushiaa 309–371UCSCSushi repeat (SCR repeat)

Sushiaa 376–447UCSCSushi repeat (SCR repeat)

Trypsinaa 464–697UCSCTrypsin

Gene Aliases

HGNC Name

complement C1r

HGNC Previous Name

complement component 1, r subcomponent

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001733.7

p.H352insFs

c.1054dupC

Surrounding Variants

1 paper

NM_001733.7

p.T355del1

c.1063_1064delTGT

3 papers

NM_001733.7

p.C358F

c.1073G>T

3 papers

NM_001733.7

p.W364C

c.1092G>T

3 papers

NM_001733.7

p.W364C

c.1092G>C

1 paper

NM_001733.7

p.C371R

c.1111T>C

4 papers

NM_001733.7

p.C371W

c.1113C>G

1 paper

NM_001733.7

p.K372N

c.1116G>T

1 paper

NM_001733.7

p.K372N

c.1116G>C

2 papers

NM_001733.7

p.R380*

c.1138C>T

1 paper

NM_001733.7

p.A400_Y405delins

c.1200_1215delinsTCATGTAATA

1 paper

NM_001733.7

p.I345L

c.1033A>T

1 paper

NM_001733.7

p.I345L

c.1033A>C