Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC

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
1–12 of 225 variants
166 papers
NM_001317778.2
p.I73T
c.218T>C
22 papers
NM_001317778.2
p.T138N
c.413C>A
17 papers
NM_001317778.2
p.G100S
c.298G>A
17 papers
NM_001317778.2
p.C121G
c.361T>G
16 papers
NM_001317778.2
p.E66K
c.196G>A
12 papers
NM_001317778.2
p.V39L
c.115G>C
12 papers
NM_001317778.2
p.V39L
c.115G>T
10 papers
NM_001317778.2
p.Y104H
c.310T>C
10 papers
NM_001317778.2
p.Q145_A146Splc
c.435+1G>A
9 papers
NM_001317778.2
p.M71V
c.211A>G
8 papers
NM_001317778.2
p.P30L
c.89C>T
8 papers
NM_001317778.2
p.I38F
c.112A>T
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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."