Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.C29S

SFTPC

366 papers

RefSeq Summary

This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a su...

Pfam Domains

SP_C-Propepaa 1–93UCSCSurfactant protein C, N terminal propeptide
BRICHOSaa 96–196UCSCBRICHOS domain

Gene Aliases

HGNC Name

surfactant protein C

HGNC Previous Symbol

SFTP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001317778.2
p.C29S
c.86G>C
Surrounding Variants
1 paper
NM_001317778.2
p.C29S
c.85T>A
1 paper
NM_001317778.2
p.C29G
c.85T>G
1 paper
NM_001317778.2
p.P30A
c.88C>G
8 papers
NM_001317778.2
p.P30L
c.89C>T
1 paper
NM_001317778.2
p.C28Y
c.83G>A
1 paper
NM_001317778.2
p.C28S
c.83G>C
1 paper
NM_001317778.2
p.C28S
c.82T>A
1 paper
NM_001317778.2
p.C28G
c.82T>G
1 paper
NM_001317778.2
p.V31E
c.92T>A
1 paper
NM_001317778.2
p.V31V
c.93G>A
1 paper
NM_001317778.2
p.G25D
c.74G>A
1 paper
NM_001317778.2
p.G25A
c.74G>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."