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.D96G

c.287A>G

Surrounding Variants

4 papers

NM_000344.4

p.D96N

c.286G>A

2 papers

NM_000344.4

p.D96fs

c.286_287fs

1 paper

NM_000344.4

p.K97E

c.289A>G

1 paper

NM_000344.4

p.D96del1

c.286_288delGAC

2 papers

NM_000344.4

p.G95E

c.284G>A

27 papers

NM_000344.4

p.G95R

c.283G>A

27 papers

NM_000344.4

p.G95R

c.283G>C

2 papers

NM_000344.4

p.D96delFs

c.286delG

10 papers

NM_000344.4

p.V94G

c.281T>G

2 papers

NM_000344.4

p.V94F

c.280G>T

1 paper

NM_000344.4

p.S99T

c.295T>A

1 paper

NM_000344.4

p.K93T

c.278A>C