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

38 papers

NM_000204.5

p.P50A

c.148C>G

Surrounding Variants

2 papers

NM_000204.5

p.P50T

c.148C>A

1 paper

NM_000204.5

p.Q49Q

c.147G>A

1 paper

NM_000204.5

p.P50R

c.149C>G

2 papers

NM_000204.5

p.Q49L

c.146A>T

1 paper

NM_000204.5

p.W51S

c.152G>C

4 papers

NM_000204.5

p.W51C

c.153G>T

4 papers

NM_000204.5

p.W51C

c.153G>C

1 paper

NM_000204.5

p.C48Y

c.143G>A

2 papers

NM_000204.5

p.C48R

c.142T>C

1 paper

NM_000204.5

p.Q52insFs

c.154_155insTC

1 paper

NM_000204.5

p.Q52H

c.156G>C

1 paper

NM_000204.5

p.V46delFs

c.138delG