Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.P76P

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.P76P
c.228G>C
Surrounding Variants
1 paper
NM_001317778.2
p.P76L
c.227C>T
1 paper
NM_001317778.2
p.E77*
c.229G>T
3 papers
NM_001317778.2
p.G74V
c.221G>T
3 papers
NM_001317778.2
p.I73N
c.218T>A
166 papers
NM_001317778.2
p.I73T
c.218T>C
1 paper
NM_001317778.2
p.I73S
c.218T>G
4 papers
NM_001317778.2
p.S72N
c.215G>A
9 papers
NM_001317778.2
p.M71V
c.211A>G
1 paper
NM_001317778.2
p.L69L
c.205C>T
4 papers
NM_001317778.2
p.V68D
c.203T>A
2 papers
NM_001317778.2
p.V68F
c.202G>T
1 paper
NM_001317778.2
p.S85_E86insFs
c.255_256insG
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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."