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

22 papers

NM_000204.5

p.N151S

c.452A>G

Surrounding Variants

19 papers

NM_000204.5

p.V152M

c.454G>A

1 paper

NM_000204.5

p.S146R

c.438C>G

1 paper

NM_000204.5

p.S146R

c.438C>A

1 paper

NM_000204.5

p.S146R

c.436A>C

1 paper

NM_000204.5

p.S144_W145delFs

c.432_435del4

6 papers

NM_000204.5

p.W145*

c.435G>A

7 papers

NM_000204.5

p.W145*

c.434G>A

3 papers

NM_000204.5

p.G158R

c.472G>C

3 papers

NM_000204.5

p.G158R

c.472G>A

1 paper

NM_000204.5

p.K142N

c.426A>C

1 paper

NM_000204.5

p.Q161*

c.481C>T

1 paper

NM_000204.5

p.Q161Splc

c.482+1G>C