Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.M67_V68Splc

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.M67_V68Splc
c.201+49C>T
Surrounding Variants
2 papers
NM_001317778.2
p.M67_V68Splc
c.201+49C>A
4 papers
NM_001317778.2
p.M67_V68Splc
c.201+14G>A
1 paper
NM_001317778.2
p.E66E
c.198G>A
16 papers
NM_001317778.2
p.E66K
c.196G>A
2 papers
NM_001317778.2
p.H64P
c.191A>C
1 paper
NM_001317778.2
p.M67_V68Splc
c.201+108A>G
3 papers
NM_001317778.2
p.K63E
c.187A>G
1 paper
NM_001317778.2
p.S61N
c.182G>A
3 papers
NM_001317778.2
p.S61G
c.181A>G
2 papers
NM_001317778.2
p.M60I
c.180G>A
2 papers
NM_001317778.2
p.M60I
c.180G>C
2 papers
NM_001317778.2
p.M60I
c.180G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."