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.C278Y

c.833G>A

Surrounding Variants

2 papers

NM_000204.5

p.Q277R

c.830A>G

1 paper

NM_000204.5

p.G280A

c.839G>C

4 papers

NM_000204.5

p.G280D

c.839G>A

1 paper

NM_000204.5

p.P273R

c.818C>G

7 papers

NM_000204.5

p.D283G

c.848A>G

1 paper

NM_000204.5

p.P273S

c.817C>T

1 paper

NM_000204.5

p.I285V

c.853A>G

1 paper

NM_000204.5

p.G287W

c.859G>T

23 papers

NM_000204.5

p.G287R

c.859G>C

23 papers

NM_000204.5

p.G287R

c.859G>A

1 paper

NM_000204.5

p.G269V

c.806G>T

1 paper

NM_000204.5

p.G287E

c.860G>A