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.A114G

c.341C>G

Surrounding Variants

1 paper

NM_000344.4

p.A114S

c.340G>T

1 paper

NM_000344.4

p.A114_S115insFs

c.342_343insG

5 papers

NM_000344.4

p.I113T

c.338T>C

22 papers

NM_000344.4

p.I116F

c.346A>T

3 papers

NM_000344.4

p.I116T

c.347T>C

1 paper

NM_000344.4

p.D117G

c.350A>G

37 papers

NM_000344.4

p.A111G

c.332C>G

1 paper

NM_000344.4

p.F118L

c.352T>C

1 paper

NM_000344.4

p.F118L

c.354T>A

1 paper

NM_000344.4

p.F118L

c.354T>G

6 papers

NM_000344.4

p.Y109C

c.326A>G

5 papers

NM_000344.4

p.K119R

c.356A>G