Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.T9N

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
13 papers
NM_001098668.4
p.T9N
c.26C>A
Surrounding Variants
4 papers
NM_001098668.4
p.L12W
c.35T>G
1 paper
NM_001098668.4
p.C4R
c.10T>C
1 paper
NM_001098668.4
p.A15delFs
c.45delG
1 paper
NM_001098668.4
p.W2*
c.6G>A
7 papers
NM_001098668.4
p.A19V
c.56C>T
2 papers
NM_001098668.4
p.A19E
c.56C>A
1 paper
NM_001098668.4
p.C20F
c.59G>T
1 paper
NM_001098668.4
p.D24N
c.70G>A
1 paper
NM_001098668.4
p.V25I
c.73G>A
1 paper
NM_001098668.4
p.P30L
c.89C>T
1 paper
NM_001098668.4
p.G31R
c.91G>C
1 paper
NM_001098668.4
p.P33delFs
c.99delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."