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.C54*

c.162C>A

Surrounding Variants

5 papers

NM_000204.5

p.C54W

c.162C>G

4 papers

NM_000204.5

p.I55F

c.163A>T

3 papers

NM_000204.5

p.C54R

c.160T>C

1 paper

NM_000204.5

p.E56*

c.166G>T

1 paper

NM_000204.5

p.R53K

c.158G>A

1 paper

NM_000204.5

p.E56fs

c.166_167fs

1 paper

NM_000204.5

p.Q52H

c.156G>C

1 paper

NM_000204.5

p.E56delFs

c.167delT

5 papers

NM_000204.5

p.G57D

c.170G>A

1 paper

NM_000204.5

p.Q52insFs

c.154_155insTC

4 papers

NM_000204.5

p.W51C

c.153G>T

4 papers

NM_000204.5

p.W51C

c.153G>C