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.S31_D32insFs

c.93_96dup4

Surrounding Variants

1 paper

NM_000344.4

p.S31A

c.91T>G

2 papers

NM_000344.4

p.S31fs

c.91_92fs

1 paper

NM_000344.4

p.S31fs

c.91_92fs

1 paper

NM_000344.4

p.S31F

c.92C>T

8 papers

NM_000344.4

p.D30_S31insFs

c.90_91insT

12 papers

NM_000344.4

p.D30N

c.88G>A

1 paper

NM_000344.4

p.D32G

c.95A>G

3 papers

NM_000344.4

p.I33delFs

c.98delT

1 paper

NM_000344.4

p.I33delins

c.97_99delinsTGA

1 paper

NM_000344.4

p.S28R

c.84C>A

13 papers

NM_000344.4

p.S28S

c.84C>T

1 paper

NM_000344.4

p.I33T

c.98T>C