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.I114T

c.341T>C

Surrounding Variants

2 papers

NM_004595.5

p.I114V

c.340A>G

1 paper

NM_004595.5

p.V115E

c.344T>A

8 papers

NM_004595.5

p.P112L

c.335C>T

1 paper

NM_004595.5

p.P112A

c.334C>G

1 paper

NM_004595.5

p.G118R

c.352G>A

3 papers

NM_004595.5

p.R130C

c.388C>T

8 papers

NM_004595.5

p.V132G

c.395T>G

1 paper

NM_004595.5

p.Y134H

c.400T>C

1 paper

NM_004595.5

p.Y134delFs

c.402delT

1 paper

NM_004595.5

p.D137G

c.410A>G

1 paper

NM_004595.5

p.V139E

c.416T>A

1 paper

NM_004595.5

p.Y147delFs

c.439delT