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.Q284Q

c.852A>G

Surrounding Variants

2 papers

NM_000344.4

p.K285_E286delFs

c.855_858del4

3 papers

NM_000344.4

p.K285I

c.854A>T

4 papers

NM_000344.4

p.Q284*

c.850C>T

1 paper

NM_000344.4

p.K285K

c.855A>G

2 papers

NM_000344.4

p.G287_R288delFs

c.861_864del4

1 paper

NM_000344.4

p.E286_R288del3

c.856_863del9

1 paper

NM_000344.4

p.N283N

c.849T>C

2 papers

NM_000344.4

p.N283S

c.848A>G

1 paper

NM_000344.4

p.Q282Q

c.846A>G

1 paper

NM_000344.4

p.E286E

c.858A>G

1 paper

NM_000344.4

p.Q282R

c.845A>G

6 papers

NM_000344.4

p.G287R

c.859G>A