Varaico: Literature-Extracted Genetic Variants

SMS

149 papers

RefSeq Summary

This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 an...

Pfam Domains

SpmSyn_Naa 21–117UCSCS-adenosylmethionine decarboxylase N -terminal

Spermine_synt_Naa 123–172UCSCSpermidine synthase tetramerisation domain

Spermine_synthaa 174–366UCSCSpermine/spermidine synthase domain

Gene Aliases

HGNC Name

spermine synthase

HGNC Previous Symbol

SRS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 125 variants

21 papers

NM_004595.5

p.G56S

c.166G>A

9 papers

NM_004595.5

p.R110Splc

c.329+5G>A

8 papers

NM_004595.5

p.P112L

c.335C>T

8 papers

NM_004595.5

p.V132G

c.395T>G

8 papers

NM_004595.5

p.I150T

c.449T>C

8 papers

NM_004595.5

p.Y328C

c.983A>G

7 papers

NM_004595.5

p.Q148R

c.443A>G

5 papers

NM_004595.5

p.G67E

c.200G>A

4 papers

NM_004595.5

p.M35R

c.104T>G

4 papers

NM_004595.5

p.F58L

c.172T>C

4 papers

NM_004595.5

p.F58L

c.174T>A

4 papers

NM_004595.5

p.F58L

c.174T>G