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

3 papers

NM_000204.5

p.E290D

c.870A>T

Surrounding Variants

3 papers

NM_000204.5

p.E290D

c.870A>C

1 paper

NM_000204.5

p.E290Q

c.868G>C

5 papers

NM_000204.5

p.D289V

c.866A>T

1 paper

NM_000204.5

p.G292V

c.875G>T

1 paper

NM_000204.5

p.D289H

c.865G>C

1 paper

NM_000204.5

p.D289N

c.865G>A

1 paper

NM_000204.5

p.E288V

c.863A>T

1 paper

NM_000204.5

p.E288Q

c.862G>C

1 paper

NM_000204.5

p.G287_C293delFs

c.859_878del20

1 paper

NM_000204.5

p.G287E

c.860G>A

1 paper

NM_000204.5

p.G287W

c.859G>T

23 papers

NM_000204.5

p.G287R

c.859G>C