Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Q145delFs

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.Q145delFs
c.434delA
Surrounding Variants
3 papers
NM_001317778.2
p.Q145fs
c.433_434fs
1 paper
NM_001317778.2
p.Q145P
c.434A>C
2 papers
NM_001317778.2
p.Q145R
c.434A>G
3 papers
NM_001317778.2
p.Q145Q
c.435G>A
7 papers
NM_001317778.2
p.Q145H
c.435G>C
7 papers
NM_001317778.2
p.Q145H
c.435G>T
2 papers
NM_001317778.2
p.Q145delFs
c.433delC
10 papers
NM_001317778.2
p.Q145_A146Splc
c.435+1G>A
1 paper
NM_001317778.2
p.Q145_A146Splc
c.435+1G>T
1 paper
NM_001317778.2
p.Q145_A146Splc
c.435+2T>A
3 papers
NM_001317778.2
p.Q145_A146Splc
c.435+2T>C
1 paper
NM_001317778.2
p.H142L
c.425A>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."