Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.T93_V103delFs

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.T93_V103delFs
c.278_308del31
Surrounding Variants
1 paper
NM_001317778.2
p.T93_V102delFs
c.278_306del29
1 paper
NM_001317778.2
p.T93T
c.279C>A
1 paper
NM_001317778.2
p.T91_T93del0
c.271_279del9
2 papers
NM_001317778.2
p.I96I
c.288C>T
5 papers
NM_001317778.2
p.G97S
c.289G>A
1 paper
NM_001317778.2
p.V89insFs
c.267dupT
2 papers
NM_001317778.2
p.G97C
c.289G>T
17 papers
NM_001317778.2
p.G100S
c.298G>A
3 papers
NM_001317778.2
p.G100A
c.299G>C
5 papers
NM_001317778.2
p.G100V
c.299G>T
1 paper
NM_001317778.2
p.S85_E86insFs
c.255_256insG
6 papers
NM_001317778.2
p.L101P
c.302T>C
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."