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

1–12 of 517 variants

76 papers

NM_000204.5

p.G119R

c.355G>C

76 papers

NM_000204.5

p.G119R

c.355G>A

39 papers

NM_000204.5

p.G261D

c.782G>A

38 papers

NM_000204.5

p.P50A

c.148C>G

33 papers

NM_000204.5

p.R406H

c.1217G>A

31 papers

NM_000204.5

p.I416L

c.1246A>C

31 papers

NM_000204.5

p.P553S

c.1657C>T

29 papers

NM_000204.5

p.A258T

c.772G>A

29 papers

NM_000204.5

p.I340T

c.1019T>C

29 papers

NM_000204.5

p.K441R

c.1322A>G

28 papers

NM_000204.5

p.A258T

c.772G>A

27 papers

NM_000204.5

p.R474*

c.1420C>T