Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.R35R

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.R35R
c.105C>A
Surrounding Variants
1 paper
NM_001317778.2
p.R35H
c.104G>A
1 paper
NM_001317778.2
p.K34E
c.100A>G
1 paper
NM_001317778.2
p.L37H
c.110T>A
8 papers
NM_001317778.2
p.I38F
c.112A>T
1 paper
NM_001317778.2
p.L33R
c.98T>G
1 paper
NM_001317778.2
p.I38T
c.113T>C
1 paper
NM_001317778.2
p.I38S
c.113T>G
1 paper
NM_001317778.2
p.V39del1
c.115_117delGTG
3 papers
NM_001317778.2
p.V39M
c.115G>A
12 papers
NM_001317778.2
p.V39L
c.115G>C
12 papers
NM_001317778.2
p.V39L
c.115G>T
8 papers
NM_001317778.2
p.V39A
c.116T>C
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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."