Varaico: Literature-Extracted Genetic Variants

CFI

467 papers

RefSeq Summary

This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfid...

Pfam Domains

CFAI_FIMAC_Naa 39–59UCSCComplement factor I, FIMAC N-terminal domain

Kazal_CFAIaa 61–106UCSCComplement factor I, KAZAL domain

SRCRaa 117–215UCSCScavenger receptor cysteine-rich domain

Ldl_recept_aaa 223–256UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 257–293UCSCLow-density lipoprotein receptor domain class A

Trypsinaa 333–562UCSCTrypsin

Gene Aliases

HGNC Name

complement factor I

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000204.5

p.K476E

c.1426A>G

Surrounding Variants

6 papers

NM_000204.5

p.D477H

c.1429G>C

7 papers

NM_000204.5

p.D477Splc

c.1429+1G>C

9 papers

NM_000204.5

p.R474Q

c.1421G>A

27 papers

NM_000204.5

p.R474*

c.1420C>T

1 paper

NM_000204.5

p.W472*

c.1416G>A

1 paper

NM_000204.5

p.W472*

c.1415G>A

1 paper

NM_000204.5

p.V469I

c.1405G>A

2 papers

NM_000204.5

p.I468V

c.1402A>G

8 papers

NM_000204.5

p.C467R

c.1399T>C

1 paper

NM_000204.5

p.T466I

c.1397C>T

1 paper

NM_001375284.1

p.N261S

c.782A>G

1 paper

NM_000204.5

p.D477Splc

c.1429+33A>G