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.K32N

c.96G>C

Surrounding Variants

1 paper

NM_000204.5

p.K32N

c.96G>T

1 paper

NM_000204.5

p.K32delFs

c.95_96delCT

1 paper

NM_000204.5

p.V29delFs

c.86delA

1 paper

NM_000204.5

p.D27_L28delFs

c.79_82del4

3 papers

NM_000204.5

p.D27delFs

c.80_81delAT

1 paper

NM_000204.5

p.D27D

c.81T>C

1 paper

NM_000204.5

p.D27E

c.81T>A

1 paper

NM_000204.5

p.K37insFs

c.111dupA

4 papers

NM_000204.5

p.D27fs

c.79_80fs

1 paper

NM_000204.5

p.Y38fs

c.112_113fs

3 papers

NM_000204.5

p.E26K

c.76G>A

4 papers

NM_000204.5

p.H40R

c.119A>G