Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.P67S

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
2 papers
NM_001098668.4
p.P67S
c.199C>T
Surrounding Variants
1 paper
NM_001098668.4
p.T66I
c.197C>T
1 paper
NM_001098668.4
p.P67P
c.201A>G
1 paper
NM_001098668.4
p.M60V
c.178A>G
1 paper
NM_001098668.4
p.P59delFs
c.175_176delGG
2 papers
NM_001098668.4
p.G74A
c.221G>C
1 paper
NM_001098668.4
p.L75M
c.223C>A
1 paper
NM_001098668.4
p.P76L
c.227C>T
1 paper
NM_001098668.4
p.G77E
c.230G>A
1 paper
NM_001098668.4
p.G80S
c.238G>A
1 paper
NM_001098668.4
p.V81I
c.241G>A
3 papers
NM_001098668.4
p.R85C
c.253C>T
1 paper
NM_001098668.4
p.R85H
c.254G>A
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