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

8 papers

NM_004595.5

p.Y328C

c.983A>G

Surrounding Variants

1 paper

NM_004595.5

p.R334H

c.1001G>A

1 paper

NM_004595.5

p.L335L

c.1003C>T

1 paper

NM_004595.5

p.N320Y

c.958A>T

1 paper

NM_004595.5

p.C337W

c.1011T>G

1 paper

NM_004595.5

p.N317N

c.951C>T

2 papers

NM_004595.5

p.E353Q

c.1057G>C

2 papers

NM_004595.5

p.K362E

c.1084A>G

1 paper

NM_004595.5

p.K363R

c.1088A>G

2 papers

NM_004595.5

p.M303K

c.908T>A

1 paper

NM_004595.5

p.M303fs

c.907_908fs

3 papers

NM_004595.5

p.M303fs

c.907_908fs

3 papers

NM_004595.5

p.S302L

c.905C>T