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.G10G

c.30C>A

Surrounding Variants

1 paper

NM_000344.4

p.G10D

c.29G>A

1 paper

NM_000344.4

p.G11S

c.31G>A

1 paper

NM_000344.4

p.G10A

c.29G>C

2 papers

NM_000344.4

p.G10V

c.29G>T

1 paper

NM_000344.4

p.G11D

c.32G>A

1 paper

NM_000344.4

p.G11A

c.32G>C

2 papers

NM_000344.4

p.G11V

c.32G>T

1 paper

NM_000344.4

p.G11G

c.33C>A

1 paper

NM_000344.4

p.G11G

c.33C>G

1 paper

NM_000344.4

p.G11G

c.33C>T

2 papers

NM_000344.4

p.G9D

c.26G>A

1 paper

NM_000344.4

p.G9A

c.26G>C