Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.R219W

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.R219W
c.655C>T
Surrounding Variants
2 papers
NM_001098668.4
p.Y212_G218delFs
c.635_654del20
1 paper
NM_001098668.4
p.G220R
c.658G>C
1 paper
NM_001098668.4
p.G218R
c.652G>C
1 paper
NM_001098668.4
p.G220R
c.658G>A
1 paper
NM_001098668.4
p.P216P
c.648T>C
1 paper
NM_001098668.4
p.Q223*
c.667C>T
26 papers
NM_001098668.4
p.Q223K
c.667C>A
3 papers
NM_001098668.4
p.R213*
c.637C>T
2 papers
NM_001098668.4
p.Y212fs
c.634_635fs
1 paper
NM_001098668.4
p.W211C
c.633G>T
1 paper
NM_001098668.4
p.W211C
c.633G>C
1 paper
NM_001098668.4
p.W211R
c.631T>C
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