Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.V50L

SFTPA2

194 papers

RefSeq Summary

This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the ...

Pfam Domains

Lectin_Caa 144–248UCSCLectin C-type domain

Gene Aliases

HGNC Name

surfactant protein A2

HGNC Alias Symbols

SP-A2; COLEC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001098668.4
p.V50L
c.148G>C
Surrounding Variants
1 paper
NM_001098668.4
p.V50I
c.148G>A
2 papers
NM_001098668.4
p.K51*
c.151A>T
1 paper
NM_001098668.4
p.K51I
c.152A>T
1 paper
NM_001098668.4
p.R47G
c.139A>G
1 paper
NM_001098668.4
p.P54S
c.160C>T
1 paper
NM_001098668.4
p.D45D
c.135C>T
1 paper
NM_001098668.4
p.L41delFs
c.122delA
1 paper
NM_001098668.4
p.H39D
c.115C>G
1 paper
NM_001098668.4
p.G34fs
c.100_101fs
1 paper
NM_001098668.4
p.P33delFs
c.99delG
1 paper
NM_001098668.4
p.G31R
c.91G>C
1 paper
NM_001098668.4
p.P30L
c.89C>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."