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

30 papers

NM_000344.4

p.S262I

c.785G>T

Surrounding Variants

9 papers

NM_000344.4

p.S262G

c.784A>G

1 paper

NM_000344.4

p.S262C

c.784A>T

1 paper

NM_000344.4

p.S262S

c.786T>C

1 paper

NM_000344.4

p.G261A

c.782G>C

9 papers

NM_000344.4

p.M263T

c.788T>C

14 papers

NM_000344.4

p.M263R

c.788T>G

1 paper

NM_000344.4

p.G261fs

c.781_782fs

8 papers

NM_000344.4

p.G261fs

c.781_782fs

9 papers

NM_000344.4

p.L260S

c.779T>C

1 paper

NM_000344.4

p.L264S

c.791T>C

3 papers

NM_000344.4

p.L260insFs

c.780dupG

12 papers

NM_000344.4

p.S266P

c.796T>C