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.M303fs

c.907_908fs

Surrounding Variants

3 papers

NM_004595.5

p.M303fs

c.907_908fs

2 papers

NM_004595.5

p.M303K

c.908T>A

3 papers

NM_004595.5

p.S302L

c.905C>T

1 paper

NM_004595.5

p.L297M

c.889C>A

1 paper

NM_004595.5

p.D289Splc

c.865+2T>C

1 paper

NM_004595.5

p.S285T

c.853T>A

1 paper

NM_004595.5

p.S285A

c.853T>G

1 paper

NM_004595.5

p.V280A

c.839T>C

1 paper

NM_004595.5

p.V280G

c.839T>G

1 paper

NM_004595.5

p.V280L

c.838G>C

4 papers

NM_004595.5

p.L277F

c.831G>C

4 papers

NM_004595.5

p.L277F

c.831G>T