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.P13P

c.39G>T

Surrounding Variants

4 papers

NM_000344.4

p.P13R

c.38C>G

5 papers

NM_000344.4

p.E14*

c.40G>T

1 paper

NM_000344.4

p.E14fs

c.40_41fs

2 papers

NM_000344.4

p.E14Fs

c.41_42delinsCFs

1 paper

NM_000344.4

p.P13T

c.37C>A

1 paper

NM_000344.4

p.P13A

c.37C>G

1 paper

NM_000344.4

p.P13S

c.37C>T

21 papers

NM_000344.4

p.Q15*

c.43C>T

1 paper

NM_000344.4

p.V12A

c.35T>C

1 paper

NM_000344.4

p.Q15insFs

c.44_45insG

1 paper

NM_000344.4

p.Q15P

c.44A>C

1 paper

NM_000344.4

p.Q15R

c.44A>G