Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.S85_E86insFs

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.S85_E86insFs
c.255_256insG
Surrounding Variants
1 paper
NM_001317778.2
p.V89insFs
c.267dupT
1 paper
NM_001317778.2
p.T91_T93del0
c.271_279del9
1 paper
NM_001317778.2
p.T93_V102delFs
c.278_306del29
1 paper
NM_001317778.2
p.T93_V103delFs
c.278_308del31
1 paper
NM_001317778.2
p.T93T
c.279C>A
1 paper
NM_001317778.2
p.E77*
c.229G>T
1 paper
NM_001317778.2
p.P76P
c.228G>C
1 paper
NM_001317778.2
p.P76L
c.227C>T
2 papers
NM_001317778.2
p.I96I
c.288C>T
5 papers
NM_001317778.2
p.G97S
c.289G>A
3 papers
NM_001317778.2
p.G74V
c.221G>T
2 papers
NM_001317778.2
p.G97C
c.289G>T
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