Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2

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
1–12 of 114 variants
26 papers
NM_001098668.4
p.Q223K
c.667C>A
20 papers
NM_001098668.4
p.G231V
c.692G>T
19 papers
NM_001098668.4
p.A91P
c.271G>C
18 papers
NM_001098668.4
p.F198S
c.593T>C
13 papers
NM_001098668.4
p.T9N
c.26C>A
12 papers
NM_001098668.4
p.V178M
c.532G>A
7 papers
NM_001098668.4
p.A19V
c.56C>T
7 papers
NM_001098668.4
p.N210T
c.629A>C
6 papers
NM_001098668.4
p.V50L
c.148G>C
6 papers
NM_001098668.4
p.R219W
c.655C>T
5 papers
NM_001098668.4
p.I131T
c.392T>C
5 papers
NM_001098668.4
p.N171Y
c.511A>T
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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."