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.V396A

c.1187T>C

Surrounding Variants

2 papers

NM_000204.5

p.V397L

c.1189G>T

2 papers

NM_000204.5

p.V397L

c.1189G>C

3 papers

NM_000204.5

p.V397E

c.1190T>A

1 paper

NM_000204.5

p.V397_D398insFs

c.1191_1192insAT

1 paper

NM_000204.5

p.D398G

c.1193A>G

7 papers

NM_000204.5

p.W399R

c.1195T>C

7 papers

NM_000204.5

p.W399R

c.1195T>A

4 papers

NM_000204.5

p.I392_W393insFs

c.1176_1177dupAT

1 paper

NM_000204.5

p.W399*

c.1196G>A

4 papers

NM_000204.5

p.W393fs

c.1177_1178fs

4 papers

NM_000204.5

p.P402S

c.1204C>T

1 paper

NM_000204.5

p.Y390*

c.1170C>G