Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.H59R

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
7 papers
NM_001317778.2
p.H59R
c.176A>G
Surrounding Variants
1 paper
NM_001317778.2
p.M60V
c.178A>G
1 paper
NM_001317778.2
p.H59delFs
c.175_176delCA
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
3 papers
NM_001317778.2
p.S61G
c.181A>G
1 paper
NM_001317778.2
p.S61N
c.182G>A
3 papers
NM_001317778.2
p.K63E
c.187A>G
6 papers
NM_001317778.2
p.L55F
c.163C>T
1 paper
NM_001317778.2
p.L54L
c.162G>C
2 papers
NM_001317778.2
p.H64P
c.191A>C
7 papers
NM_001317778.2
p.A53T
c.157G>A
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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."