Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.C121S

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.C121S
c.362G>C
Surrounding Variants
3 papers
NM_001317778.2
p.C121Y
c.362G>A
4 papers
NM_001317778.2
p.C121F
c.362G>T
1 paper
NM_001317778.2
p.C121W
c.363C>G
17 papers
NM_001317778.2
p.C121G
c.361T>G
1 paper
NM_001317778.2
p.C120*
c.360C>A
1 paper
NM_001317778.2
p.M124T
c.371T>C
1 paper
NM_001317778.2
p.I126_E129delFs
c.377_386del10
8 papers
NM_001317778.2
p.A116D
c.347C>A
1 paper
NM_001317778.2
p.I126T
c.377T>C
4 papers
NM_001317778.2
p.I126R
c.377T>G
5 papers
NM_001317778.2
p.P115L
c.344C>T
1 paper
NM_001317778.2
p.P115_P117del3
c.343_350del9
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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."