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

1–12 of 141 variants

34 papers

NM_000542.5

p.T131I

c.392C>T

16 papers

NM_000542.5

p.R236C

c.706C>T

10 papers

NM_000542.5

p.P121Fs

c.361delinsGAAFs

4 papers

NM_000542.5

p.P121fs

c.361_362fs

4 papers

NM_000542.5

p.G135S

c.403G>A

4 papers

NM_000542.5

p.C248*

c.744C>A

3 papers

NM_000542.5

p.Q34E

c.100C>G

3 papers

NM_000542.5

p.C100G

c.298T>G

3 papers

NM_000542.5

p.S133Fs

c.397delinsGAAFs

3 papers

NM_000542.5

p.D166delFs

c.496delC

3 papers

NM_000542.5

p.C235R

c.703T>C

3 papers

NM_000542.5

p.R252C

c.754C>T