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

1 paper

NM_000344.4

p.S270G

c.808A>G

Surrounding Variants

1 paper

NM_000344.4

p.S270C

c.808A>T

3 papers

NM_000344.4

p.G271_Y272insFs

c.811_814dup4

1 paper

NM_000344.4

p.Y268*

c.804C>A

1 paper

NM_000344.4

p.Y268H

c.802T>C

3 papers

NM_000344.4

p.Y272fs

c.814_815fs

112 papers

NM_000344.4

p.Y272C

c.815A>G

1 paper

NM_000344.4

p.W267*

c.801G>A

1 paper

NM_000344.4

p.W267*

c.800G>A

1 paper

NM_000344.4

p.Y272*

c.816T>A

1 paper

NM_000344.4

p.Y272*

c.816T>G

1 paper

NM_000344.4

p.H273Y

c.817C>T

4 papers

NM_000344.4

p.H273_T274insFs

c.819_820insT