Varaico: Literature-Extracted Genetic Variants

SFTPB

174 papers

RefSeq Summary

This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-acti...

Pfam Domains

SapAaa 29–61UCSCSaposin A-type domain

SapB_1aa 67–104UCSCSaposin-like type B, region 1

SapB_2aa 110–143UCSCSaposin-like type B, region 2

SapB_2aa 333–366UCSCSaposin-like type B, region 2

Gene Aliases

HGNC Name

surfactant protein B

HGNC Previous Symbol

SFTP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000542.5

p.F127delFs

c.379delA

Surrounding Variants

2 papers

NM_000542.5

p.Q128Q

c.384G>A

1 paper

NM_000542.5

p.D125Fs

c.375delinsGAAFs

1 paper

NM_000542.5

p.Y126_N129delFs

c.377_386del10

34 papers

NM_000542.5

p.T131I

c.392C>T

1 paper

NM_000542.5

p.P121insFs

c.361_362insAA

1 paper

NM_000542.5

p.P121delins

c.361delinsGAAC

10 papers

NM_000542.5

p.P121Fs

c.361delinsGAAFs

4 papers

NM_000542.5

p.P121fs

c.361_362fs

1 paper

NM_000542.5

p.N113K

c.339C>A

1 paper

NM_000542.5

p.C112G

c.334T>G

1 paper

NM_000542.5

p.T131_D132Splc

c.393+40C>T

2 papers

NM_000542.5

p.M109I

c.327G>A