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.Y411*

c.1233C>G

Surrounding Variants

3 papers

NM_000204.5

p.Y411*

c.1233C>A

15 papers

NM_000204.5

p.V412M

c.1234G>A

2 papers

NM_000204.5

p.R414K

c.1241G>A

3 papers

NM_000204.5

p.I415V

c.1243A>G

1 paper

NM_000204.5

p.I415T

c.1244T>C

1 paper

NM_000204.5

p.I416V

c.1246A>G

31 papers

NM_000204.5

p.I416L

c.1246A>C

33 papers

NM_000204.5

p.R406H

c.1217G>A

15 papers

NM_000204.5

p.R406C

c.1216C>T

1 paper

NM_000204.5

p.K405N

c.1215A>T

1 paper

NM_000204.5

p.K405N

c.1215A>C

15 papers

NM_000204.5

p.H418L

c.1253A>T