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.Y426Y

c.1278C>T

Surrounding Variants

1 paper

NM_000204.5

p.T425I

c.1274C>T

2 papers

NM_000204.5

p.N428Y

c.1282A>T

4 papers

NM_000204.5

p.N428S

c.1283A>G

10 papers

NM_000204.5

p.G424D

c.1271G>A

3 papers

NM_000204.5

p.D429E

c.1287C>G

3 papers

NM_000204.5

p.D429E

c.1287C>A

2 papers

NM_000204.5

p.A423E

c.1268C>A

1 paper

NM_000204.5

p.I430T

c.1289T>C

11 papers

NM_000204.5

p.A431T

c.1291G>A

1 paper

NM_000204.5

p.N422T

c.1265A>C

1 paper

NM_000204.5

p.Y421C

c.1262A>G

5 papers

NM_000204.5

p.I433V

c.1297A>G