Varaico: Literature-Extracted Genetic Variants

SMN1

1,019 papers

RefSeq Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. ...

Pfam Domains

SMN_G2-BDaa 27–55UCSCSurvival Motor Neuron, Gemin2-binding domain

SMN_Tudoraa 90–146UCSCSurvival motor neuron protein (SMN), Tudor domain

SMN_YG-boxaa 226–293UCSCSurvival Motor Neuron, YG-box

Gene Aliases

HGNC Name

survival of motor neuron 1, telomeric

HGNC Previous Symbols

SMA@; SMA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000344.4

p.S290A

c.868T>G

Surrounding Variants

3 papers

NM_000344.4

p.C289C

c.867C>T

1 paper

NM_000344.4

p.S290L

c.869C>T

1 paper

NM_000344.4

p.S290S

c.870A>C

1 paper

NM_000344.4

p.S290S

c.870A>G

2 papers

NM_000344.4

p.S290S

c.870A>T

1 paper

NM_000344.4

p.C289S

c.866G>C

2 papers

NM_000344.4

p.H291Y

c.871C>T

1 paper

NM_000344.4

p.C289S

c.865T>A

1 paper

NM_000344.4

p.R288R

c.864G>A

1 paper

NM_000344.4

p.R288S

c.864G>C

1 paper

NM_000344.4

p.R288S

c.864G>T

2 papers

NM_000344.4

p.R288K

c.863G>A