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.C107_I108ins1

c.321_322insGCC

Surrounding Variants

1 paper

NM_000344.4

p.C107ins1

c.320_321insGCC

1 paper

NM_000344.4

p.C107*

c.321C>A

1 paper

NM_000344.4

p.G106V

c.317G>T

1 paper

NM_000344.4

p.G106S

c.316G>A

1 paper

NM_000344.4

p.G106R

c.316G>C

1 paper

NM_000344.4

p.G106fs

c.316_317fs

6 papers

NM_000344.4

p.Y109C

c.326A>G

3 papers

NM_000344.4

p.D105_G106insFs

c.314_317dup4

1 paper

NM_000344.4

p.E104A

c.311A>C

2 papers

NM_000344.4

p.E104K

c.310G>A

2 papers

NM_000344.4

p.E104insFs

c.312dupA

37 papers

NM_000344.4

p.A111G

c.332C>G