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

4 papers

NM_000204.5

p.V230E

c.689T>A

Surrounding Variants

6 papers

NM_000204.5

p.V230M

c.688G>A

3 papers

NM_000204.5

p.C229G

c.685T>G

4 papers

NM_000204.5

p.C229R

c.685T>C

1 paper

NM_000204.5

p.F226delins

c.678delinsTTCT

1 paper

NM_000204.5

p.D225V

c.674A>T

4 papers

NM_000204.5

p.D224N

c.670G>A

1 paper

NM_000204.5

p.M223V

c.667A>G

1 paper

NM_000204.5

p.M238T

c.713T>C

1 paper

NM_000204.5

p.S221C

c.662C>G

8 papers

NM_000204.5

p.S221Y

c.662C>A

3 papers

NM_000204.5

p.A240T

c.718G>A

22 papers

NM_000204.5

p.A240G

c.719C>G