Varaico: Literature-Extracted Genetic Variants

C1S

106 papers

RefSeq Summary

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first c...

Pfam Domains

CUBaa 16–127UCSCCUB domain

FXa_inhibitionaa 139–171UCSCCoagulation Factor Xa inhibitory site

CUBaa 175–287UCSCCUB domain

Sushiaa 294–354UCSCSushi repeat (SCR repeat)

Sushiaa 359–421UCSCSushi repeat (SCR repeat)

Trypsinaa 438–675UCSCTrypsin

Gene Aliases

HGNC Name

complement C1s

HGNC Previous Name

complement component 1, s subcomponent

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001734.5

p.E297K

c.889G>A

Surrounding Variants

2 papers

NM_001734.5

p.D298_V303ins2

c.892_909dup18

4 papers

NM_001734.5

p.C294R

c.880T>C

1 paper

NM_001734.5

p.N301Y

c.901A>T

1 paper

NM_001734.5

p.S302del1

c.904_906delTCT

1 paper

NM_001734.5

p.S302_V303insTG

c.904_908ins6

4 papers

NM_001734.5

p.D315N

c.943G>A

3 papers

NM_001734.5

p.V316del1

c.946_947delGTG

1 paper

NM_001734.5

p.C321S

c.961T>A

1 paper

NM_001734.5

p.C321G

c.961T>G

1 paper

NM_001734.5

p.C321S

c.962G>C

1 paper

NM_001734.5

p.F325S

c.974T>C

1 paper

NM_001734.5

p.R331H

c.992G>A