Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.M66I

SFTPA1

148 papers

RefSeq Summary

This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the sur...

Pfam Domains

Lectin_Caa 144–248UCSCLectin C-type domain

Gene Aliases

HGNC Name

surfactant protein A1

HGNC Previous Symbol

SFTP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005411.5
p.M66I
c.198G>A
Surrounding Variants
1 paper
NM_005411.5
p.M66I
c.198G>C
1 paper
NM_005411.5
p.M66I
c.198G>T
1 paper
NM_005411.5
p.M66T
c.197T>C
5 papers
NM_005411.5
p.P62P
c.186A>G
1 paper
NM_005411.5
p.P59P
c.177C>T
1 paper
NM_005411.5
p.G74A
c.221G>C
1 paper
NM_005411.5
p.P59delFs
c.175_176delCC
1 paper
NM_005411.5
p.P76L
c.227C>T
1 paper
NM_005411.5
p.G77E
c.230G>A
1 paper
NM_005411.5
p.G77G
c.231A>G
1 paper
NM_005411.5
p.P79S
c.235C>T
1 paper
NM_005411.5
p.G80S
c.238G>A
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