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.W546R

c.1636T>A

Surrounding Variants

1 paper

NM_000204.5

p.W546R

c.1636T>C

2 papers

NM_000204.5

p.S545R

c.1635T>G

2 papers

NM_000204.5

p.S545R

c.1635T>A

6 papers

NM_000204.5

p.W546*

c.1637G>A

4 papers

NM_000204.5

p.W546*

c.1638G>A

1 paper

NM_000204.5

p.G547R

c.1639G>C

1 paper

NM_000204.5

p.G547R

c.1639G>A

2 papers

NM_000204.5

p.S545R

c.1633A>C

17 papers

NM_000204.5

p.E548Q

c.1642G>C

1 paper

NM_000204.5

p.E548G

c.1643A>G

7 papers

NM_000204.5

p.V543A

c.1628T>C

2 papers

NM_000204.5

p.N549fs

c.1645_1646fs