Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Y106*

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
2 papers
NM_001317778.2
p.Y106*
c.318C>A
Surrounding Variants
2 papers
NM_001317778.2
p.Y106*
c.318C>G
1 paper
NM_001317778.2
p.Y106D
c.316T>G
5 papers
NM_001317778.2
p.D105G
c.314A>G
2 papers
NM_001317778.2
p.Q108*
c.322C>T
2 papers
NM_001317778.2
p.D105N
c.313G>A
1 paper
NM_001317778.2
p.D105Y
c.313G>T
1 paper
NM_001317778.2
p.D105del1
c.313_314delGAC
10 papers
NM_001317778.2
p.Y104H
c.310T>C
1 paper
NM_001317778.2
p.V103V
c.309G>C
1 paper
NM_001317778.2
p.V103V
c.309G>T
1 paper
NM_001317778.2
p.V103M
c.307G>A
1 paper
NM_001317778.2
p.V103L
c.307G>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."