Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.V164A

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.V164A
c.491T>C
Surrounding Variants
1 paper
NM_001098668.4
p.A163delFs
c.489delA
1 paper
NM_001098668.4
p.R161H
c.482G>A
1 paper
NM_001098668.4
p.E169K
c.505G>A
1 paper
NM_001098668.4
p.E170K
c.508G>A
5 papers
NM_001098668.4
p.N171Y
c.511A>T
2 papers
NM_001098668.4
p.N171I
c.512A>T
1 paper
NM_001098668.4
p.E172K
c.514G>A
1 paper
NM_001098668.4
p.A154P
c.460G>C
1 paper
NM_001098668.4
p.A175_S176del2
c.523_527del6
12 papers
NM_001098668.4
p.V178M
c.532G>A
1 paper
NM_001098668.4
p.K180E
c.538A>G
3 papers
NM_001098668.4
p.Y181C
c.542A>G
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