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.Q41E

c.121C>G

Surrounding Variants

2 papers

NM_000542.5

p.W39*

c.117G>A

2 papers

NM_000542.5

p.W39*

c.116G>A

1 paper

NM_000542.5

p.L43P

c.128T>C

1 paper

NM_000542.5

p.F38C

c.113T>G

1 paper

NM_000542.5

p.L43L

c.129G>C

1 paper

NM_000542.5

p.E37E

c.111G>A

1 paper

NM_000542.5

p.Q45E

c.133C>G

1 paper

NM_000542.5

p.Q45insFs

c.134_135insAA

3 papers

NM_000542.5

p.Q34E

c.100C>G

2 papers

NM_000542.5

p.C49R

c.145T>C

1 paper

NM_000542.5

p.C49F

c.146G>T

1 paper

NM_000542.5

p.L30V

c.88T>G