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.R336G

c.1006C>G

Surrounding Variants

4 papers

NM_000204.5

p.R336*

c.1006C>T

1 paper

NM_000204.5

p.R336Q

c.1007G>A

9 papers

NM_000204.5

p.R339*

c.1015C>T

2 papers

NM_000204.5

p.R339L

c.1016G>T

9 papers

NM_000204.5

p.R339Q

c.1016G>A

1 paper

NM_000204.5

p.I340L

c.1018A>C

29 papers

NM_000204.5

p.I340T

c.1019T>C

1 paper

NM_000204.5

p.V329V

c.987T>A

10 papers

NM_000204.5

p.G342E

c.1025G>A

7 papers

NM_000204.5

p.G328R

c.982G>C

7 papers

NM_000204.5

p.G328R

c.982G>A

1 paper

NM_000204.5

p.C327Y

c.980G>A