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.K267E

c.799A>G

Surrounding Variants

1 paper

NM_000204.5

p.K267Q

c.799A>C

3 papers

NM_000204.5

p.K267N

c.801A>T

3 papers

NM_000204.5

p.K267N

c.801A>C

7 papers

NM_000204.5

p.S268L

c.803C>T

5 papers

NM_000204.5

p.S268S

c.804G>A

2 papers

NM_000204.5

p.G269R

c.805G>C

6 papers

NM_000204.5

p.G269S

c.805G>A

1 paper

NM_000204.5

p.G269V

c.806G>T

1 paper

NM_000204.5

p.G263fs

c.787_788fs

8 papers

NM_000204.5

p.G263V

c.788G>T

5 papers

NM_000204.5

p.K262delFs

c.786delT

2 papers

NM_000204.5

p.G263fs

c.787_788fs