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

21 papers

NM_004595.5

p.G56S

c.166G>A

Surrounding Variants

1 paper

NM_004595.5

p.G56C

c.166G>T

1 paper

NM_004595.5

p.G56D

c.167G>A

1 paper

NM_004595.5

p.Y51C

c.152A>G

1 paper

NM_004595.5

p.A49delFs

c.145delG

1 paper

NM_004595.5

p.L48delFs

c.144delA

1 paper

NM_004595.5

p.G46_Y47Fs

c.138_141delinsCTFs

1 paper

NM_004595.5

p.H45D

c.133C>G

1 paper

NM_004595.5

p.D44delFs

c.131delA

1 paper

NM_004595.5

p.M35K

c.104T>A

4 papers

NM_004595.5

p.M35R

c.104T>G

1 paper

NM_004595.5

p.G34E

c.101G>A

1 paper

NM_004595.5

p.S28P

c.82T>C