Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.E191G

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
1 paper
NM_001098668.4
p.E191G
c.572A>G
Surrounding Variants
1 paper
NM_001098668.4
p.G192S
c.574G>A
1 paper
NM_001098668.4
p.P193S
c.577C>T
2 papers
NM_001098668.4
p.Y186C
c.557A>G
2 papers
NM_001098668.4
p.A185V
c.554C>T
18 papers
NM_001098668.4
p.F198S
c.593T>C
1 paper
NM_001098668.4
p.N182S
c.545A>G
3 papers
NM_001098668.4
p.Y181C
c.542A>G
1 paper
NM_001098668.4
p.K180E
c.538A>G
12 papers
NM_001098668.4
p.V178M
c.532G>A
1 paper
NM_001098668.4
p.A175_S176del2
c.523_527del6
5 papers
NM_001098668.4
p.N207Y
c.619A>T
2 papers
NM_001098668.4
p.N207S
c.620A>G
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