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

4 papers

NM_000204.5

p.G125R

c.373G>A

Surrounding Variants

4 papers

NM_000204.5

p.G125R

c.373G>C

1 paper

NM_000204.5

p.I126T

c.377T>C

1 paper

NM_000204.5

p.V127G

c.380T>G

4 papers

NM_000204.5

p.V127A

c.380T>C

1 paper

NM_000204.5

p.T121K

c.362C>A

3 papers

NM_000204.5

p.V129G

c.386T>G

2 papers

NM_000204.5

p.G119*

c.355G>T

76 papers

NM_000204.5

p.G119R

c.355G>C

76 papers

NM_000204.5

p.G119R

c.355G>A

11 papers

NM_000204.5

p.L131R

c.392T>G

7 papers

NM_000204.5

p.H118R

c.353A>G

1 paper

NM_000204.5

p.Q134*

c.400C>T