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.K442Q

c.1324A>C

Surrounding Variants

1 paper

NM_000204.5

p.K442E

c.1324A>G

30 papers

NM_000204.5

p.K441R

c.1322A>G

NM_001331035.2

p.K434R

c.1301A>G

1 paper

NM_000204.5

p.C444G

c.1330T>G

2 papers

NM_000204.5

p.G439R

c.1315G>C

2 papers

NM_000204.5

p.G439R

c.1315G>A

2 papers

NM_000204.5

p.K437insFs

c.1311dupA

2 papers

NM_000204.5

p.D438fs

c.1312_1313fs

3 papers

NM_000204.5

p.P447S

c.1339C>T

1 paper

NM_000204.5

p.K436I

c.1307A>T

8 papers

NM_000204.5

p.R448C

c.1342C>T

1 paper

NM_000204.5

p.R448G

c.1342C>G

1 paper

NM_000204.5

p.L432_M435del4

c.1294_1304del12