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.P528L

c.1583C>T

Surrounding Variants

1 paper

NM_000204.5

p.P528T

c.1582C>A

1 paper

NM_000204.5

p.G527V

c.1580G>T

5 papers

NM_000204.5

p.S525A

c.1573T>G

1 paper

NM_000204.5

p.C531W

c.1593T>G

1 paper

NM_000204.5

p.S525P

c.1573T>C

3 papers

NM_000204.5

p.M532V

c.1594A>G

13 papers

NM_000204.5

p.D524V

c.1571A>T

4 papers

NM_000204.5

p.D524A

c.1571A>C

1 paper

NM_000204.5

p.D524Y

c.1570G>T

5 papers

NM_000204.5

p.K522T

c.1565A>C

6 papers

NM_000204.5

p.N536K

c.1608T>G

6 papers

NM_000204.5

p.N536K

c.1608T>A