Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.P132A

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.P132A
c.394C>G
Surrounding Variants
1 paper
NM_001317778.2
p.S133Fs
c.397delinsGAAFs
4 papers
NM_001317778.2
p.I131T
c.392T>C
1 paper
NM_001317778.2
p.S133R
c.397A>C
4 papers
NM_001317778.2
p.I131delFs
c.392delT
1 paper
NM_001317778.2
p.S133N
c.398G>A
1 paper
NM_001317778.2
p.S133R
c.399T>A
1 paper
NM_001317778.2
p.S133R
c.399T>G
1 paper
NM_001317778.2
p.E129*
c.385G>T
1 paper
NM_001317778.2
p.E135D
c.405G>C
1 paper
NM_001317778.2
p.A136T
c.406G>A
1 paper
NM_001317778.2
p.A136V
c.407C>T
1 paper
NM_001317778.2
p.A136delFs
c.408delT
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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."