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.G287G

c.861A>C

Surrounding Variants

3 papers

NM_000344.4

p.G287_R288insFs

c.861_862insT

1 paper

NM_000344.4

p.G287G

c.861A>G

1 paper

NM_000344.4

p.R288R

c.862A>C

1 paper

NM_000344.4

p.R288W

c.862A>T

1 paper

NM_000344.4

p.R288fs

c.862_863fs

6 papers

NM_000344.4

p.G287R

c.859G>A

2 papers

NM_000344.4

p.R288K

c.863G>A

15 papers

NM_000344.4

p.G287R

c.859G>C

1 paper

NM_000344.4

p.R288T

c.863G>C

27 papers

NM_000344.4

p.R288M

c.863G>T

2 papers

NM_000344.4

p.G287*

c.859G>T

1 paper

NM_000344.4

p.E286E

c.858A>G