Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.R179C

F10

519 papers

RefSeq Summary

This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-c...

Pfam Domains

Glaaa 45–85UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
EGFaa 90–120UCSCEGF-like domain
FXa_inhibitionaa 129–164UCSCCoagulation Factor Xa inhibitory site
FXa_inhibitionaa 129–164UCSCCoagulation Factor Xa inhibitory site
Trypsinaa 235–311UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor X

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000504.4
p.R179C
c.535C>T
Surrounding Variants
1 paper
NM_000504.4
p.R180_K181insFs
c.540_543dup4
1 paper
NM_000504.4
p.E178K
c.532G>A
1 paper
NM_000504.4
p.L177_R182del0
c.529_546del18
1 paper
NM_000504.4
p.T176A
c.526A>G
1 paper
NM_000504.4
p.R182G
c.544A>G
1 paper
NM_000504.4
p.R182M
c.545G>T
1 paper
NM_000504.4
p.Q175R
c.524A>G
1 paper
NM_000504.4
p.Q175_S183ins3
c.524_547dup24
2 papers
NM_000504.4
p.Q175*
c.523C>T
2 papers
NM_000504.4
p.T176_Q186del0
c.526_558del33
1 paper
NM_000504.4
p.G173_K174insFs
c.519_520insC
1 paper
NM_000504.4
p.V184A
c.551T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."