Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.K114E

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.K114E
c.340A>G
Surrounding Variants
1 paper
NM_001317778.2
p.Y113C
c.338A>G
1 paper
NM_001317778.2
p.P115_P117del3
c.343_350del9
5 papers
NM_001317778.2
p.Y113H
c.337T>C
5 papers
NM_001317778.2
p.P115L
c.344C>T
4 papers
NM_001317778.2
p.A112T
c.334G>A
8 papers
NM_001317778.2
p.A116D
c.347C>A
2 papers
NM_001317778.2
p.L110P
c.329T>C
6 papers
NM_001317778.2
p.L110R
c.329T>G
1 paper
NM_001317778.2
p.L109R
c.326T>G
1 paper
NM_001317778.2
p.L109fs
c.325_326fs
4 papers
NM_001317778.2
p.Q108_L109Splc
c.325-1G>A
1 paper
NM_001317778.2
p.Q108_L109Splc
c.325-2A>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."