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

Selected Variant

1 paper

NM_004595.5

p.A59T

c.175G>A

Surrounding Variants

4 papers

NM_004595.5

p.F58L

c.174T>A

4 papers

NM_004595.5

p.F58L

c.174T>G

4 papers

NM_004595.5

p.F58L

c.172T>C

1 paper

NM_004595.5

p.I63delFs

c.189delT

1 paper

NM_004595.5

p.P65S

c.193C>T

1 paper

NM_004595.5

p.H66R

c.197A>G

1 paper

NM_004595.5

p.G67*

c.199G>T

5 papers

NM_004595.5

p.G67E

c.200G>A

1 paper

NM_004595.5

p.Y76F

c.227A>T

2 papers

NM_004595.5

p.A80V

c.239C>T

1 paper

NM_004595.5

p.G82A

c.245G>C

1 paper

NM_004595.5

p.E95A

c.284A>C