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.A2P

c.4G>C

Surrounding Variants

46 papers

NM_000344.4

p.A2G

c.5C>G

9 papers

NM_000344.4

p.A2V

c.5C>T

3 papers

NM_000344.4

p.M3del1

c.7_9delATG

1 paper

NM_000344.4

p.M1I

c.3G>A

1 paper

NM_000344.4

p.M1_A2insFs

c.3_4insT

1 paper

NM_000344.4

p.M3delFs

c.7_8delAT

3 papers

NM_000344.4

p.M1T

c.2T>C

1 paper

NM_000344.4

p.M1R

c.2T>G

3 papers

NM_000344.4

p.M1insFs

c.1_2insG

2 papers

NM_000344.4

p.M1insFs

c.2_3insT

3 papers

NM_000344.4

p.M3L

c.7A>C

3 papers

NM_000344.4

p.M1V

c.1A>G