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

2 papers

NM_000344.4

p.H291H

c.873T>C

Surrounding Variants

1 paper

NM_000344.4

p.H291Q

c.873T>A

1 paper

NM_000344.4

p.S292C

c.875C>G

2 papers

NM_000344.4

p.H291Y

c.871C>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.S292S

c.876C>A

1 paper

NM_000344.4

p.S292S

c.876C>G

1 paper

NM_000344.4

p.S290L

c.869C>T

1 paper

NM_000344.4

p.L293L

c.877T>C

3 papers

NM_000344.4

p.S290A

c.868T>G

1 paper

NM_000344.4

p.N294del1

c.880_881delAAT