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.L181V

c.541C>G

Surrounding Variants

1 paper

NM_000542.5

p.G183R

c.547G>C

1 paper

NM_000542.5

p.G183R

c.547G>A

1 paper

NM_000542.5

p.G183E

c.548G>A

1 paper

NM_000542.5

p.L181_A184del0

c.541_552del12

1 paper

NM_000542.5

p.L176F

c.526C>T

1 paper

NM_000542.5

p.K175E

c.523A>G

1 paper

NM_000542.5

p.A187V

c.560C>T

1 paper

NM_000542.5

p.P189L

c.566C>T

1 paper

NM_000542.5

p.L172R

c.515T>G

1 paper

NM_000542.5

p.L172L

c.514C>T

1 paper

NM_000542.5

p.P189_G190delFs

c.567_568delCA

1 paper

NM_000542.5

p.P171L

c.512C>T