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.M138V

c.412A>G

Surrounding Variants

4 papers

NM_000204.5

p.M138I

c.414G>T

4 papers

NM_000204.5

p.M138I

c.414G>C

4 papers

NM_000204.5

p.M138I

c.414G>A

2 papers

NM_000204.5

p.K136T

c.407A>C

2 papers

NM_000204.5

p.I140T

c.419T>C

1 paper

NM_000204.5

p.Q134*

c.400C>T

1 paper

NM_000204.5

p.Q134E

c.400C>G

1 paper

NM_000204.5

p.K142N

c.426A>C

11 papers

NM_000204.5

p.L131R

c.392T>G

7 papers

NM_000204.5

p.W145*

c.434G>A

6 papers

NM_000204.5

p.W145*

c.435G>A

1 paper

NM_000204.5

p.S146R

c.436A>C