Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.T138N

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
22 papers
NM_001317778.2
p.T138N
c.413C>A
Surrounding Variants
1 paper
NM_001317778.2
p.R139T
c.416G>C
1 paper
NM_001317778.2
p.R139delFs
c.417delA
1 paper
NM_001317778.2
p.R139S
c.417A>C
1 paper
NM_001317778.2
p.R139S
c.417A>T
1 paper
NM_001317778.2
p.A136V
c.407C>T
1 paper
NM_001317778.2
p.A136delFs
c.408delT
1 paper
NM_001317778.2
p.A136T
c.406G>A
1 paper
NM_001317778.2
p.E135D
c.405G>C
6 papers
NM_001317778.2
p.H142delFs
c.424delC
5 papers
NM_001317778.2
p.H142fs
c.424_425fs
1 paper
NM_001317778.2
p.H142L
c.425A>T
1 paper
NM_001317778.2
p.S133R
c.399T>A
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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."