Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.Q223K

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
26 papers
NM_001098668.4
p.Q223K
c.667C>A
Surrounding Variants
1 paper
NM_001098668.4
p.Q223*
c.667C>T
1 paper
NM_001098668.4
p.G220R
c.658G>C
1 paper
NM_001098668.4
p.G220R
c.658G>A
6 papers
NM_001098668.4
p.R219W
c.655C>T
2 papers
NM_001098668.4
p.Y212_G218delFs
c.635_654del20
1 paper
NM_001098668.4
p.G218R
c.652G>C
2 papers
NM_001098668.4
p.Y228C
c.683A>G
1 paper
NM_001098668.4
p.P216P
c.648T>C
1 paper
NM_001098668.4
p.D230N
c.688G>A
5 papers
NM_001098668.4
p.G231R
c.691G>C
5 papers
NM_001098668.4
p.G231R
c.691G>A
20 papers
NM_001098668.4
p.G231V
c.692G>T
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