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.Y421C

c.1262A>G

Surrounding Variants

1 paper

NM_000204.5

p.N422T

c.1265A>C

1 paper

NM_000204.5

p.N420H

c.1258A>C

2 papers

NM_000204.5

p.A423E

c.1268C>A

1 paper

NM_000204.5

p.E419V

c.1256A>T

10 papers

NM_000204.5

p.G424D

c.1271G>A

15 papers

NM_000204.5

p.H418L

c.1253A>T

1 paper

NM_000204.5

p.T425I

c.1274C>T

1 paper

NM_000204.5

p.Y426Y

c.1278C>T

1 paper

NM_000204.5

p.I416V

c.1246A>G

31 papers

NM_000204.5

p.I416L

c.1246A>C

1 paper

NM_000204.5

p.I415T

c.1244T>C

3 papers

NM_000204.5

p.I415V

c.1243A>G