Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.W211R

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.W211R
c.631T>C
Surrounding Variants
1 paper
NM_001098668.4
p.W211C
c.633G>T
1 paper
NM_001098668.4
p.W211C
c.633G>C
7 papers
NM_001098668.4
p.N210T
c.629A>C
2 papers
NM_001098668.4
p.Y212fs
c.634_635fs
1 paper
NM_001098668.4
p.T209N
c.626C>A
3 papers
NM_001098668.4
p.R213*
c.637C>T
1 paper
NM_001098668.4
p.Y208del1
c.622_623delGTA
1 paper
NM_001098668.4
p.Y208H
c.622T>C
1 paper
NM_001098668.4
p.N207fs
c.619_620fs
1 paper
NM_001098668.4
p.N207delFs
c.619_620delTT
2 papers
NM_001098668.4
p.N207S
c.620A>G
1 paper
NM_001098668.4
p.N207T
c.620A>C
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