Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.W233R

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
4 papers
NM_001098668.4
p.W233R
c.697T>C
Surrounding Variants
4 papers
NM_001098668.4
p.W233R
c.697T>A
3 papers
NM_001098668.4
p.W233L
c.698G>T
4 papers
NM_001098668.4
p.W233C
c.699G>T
4 papers
NM_001098668.4
p.W233C
c.699G>C
20 papers
NM_001098668.4
p.G231V
c.692G>T
5 papers
NM_001098668.4
p.G231R
c.691G>C
5 papers
NM_001098668.4
p.G231R
c.691G>A
1 paper
NM_001098668.4
p.D230N
c.688G>A
2 papers
NM_001098668.4
p.Y228C
c.683A>G
4 papers
NM_001098668.4
p.C238S
c.712T>A
4 papers
NM_001098668.4
p.C238S
c.713G>C
1 paper
NM_001098668.4
p.Y240C
c.719A>G
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