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

126 papers

NM_000344.4

p.F280F

c.840C>T

Surrounding Variants

2 papers

NM_000344.4

p.F280L

c.840C>A

2 papers

NM_000344.4

p.F280L

c.840C>G

1 paper

NM_000344.4

p.R281K

c.842G>A

3 papers

NM_000344.4

p.R281T

c.842G>C

1 paper

NM_000344.4

p.R281I

c.842G>T

1 paper

NM_000344.4

p.F280I

c.838T>A

1 paper

NM_000344.4

p.R281R

c.843A>G

1 paper

NM_000344.4

p.G279G

c.837T>A

1 paper

NM_000344.4

p.G279G

c.837T>C

1 paper

NM_000344.4

p.G279G

c.837T>G

1 paper

NM_000344.4

p.F280del1

c.838_840delTTC

7 papers

NM_000344.4

p.Q282*

c.844C>T