Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.T133Fs

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.T133Fs
c.397delinsGAAFs
Surrounding Variants
5 papers
NM_005411.5
p.I131T
c.392T>C
1 paper
NM_005411.5
p.L127L
c.379C>T
1 paper
NM_005411.5
p.S140S
c.420C>T
1 paper
NM_005411.5
p.A154P
c.460G>C
1 paper
NM_005411.5
p.G160S
c.478G>A
1 paper
NM_005411.5
p.A163delFs
c.489delT
1 paper
NM_005411.5
p.P165S
c.493C>T
1 paper
NM_005411.5
p.E170K
c.508G>A
1 paper
NM_005411.5
p.N171Y
c.511A>T
1 paper
NM_005411.5
p.N171I
c.512A>T
2 papers
NM_005411.5
p.N171K
c.513T>A
2 papers
NM_005411.5
p.N171K
c.513T>G
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