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.Y127F

c.380A>T

Surrounding Variants

3 papers

NM_000344.4

p.Y127C

c.380A>G

1 paper

NM_000344.4

p.Y127N

c.379T>A

1 paper

NM_000344.4

p.T128delFs

c.382_383delAC

5 papers

NM_000344.4

p.T128S

c.382A>T

1 paper

NM_000344.4

p.V126A

c.377T>C

1 paper

NM_000344.4

p.V126_Y127insFs

c.378_379insGT

1 paper

NM_000344.4

p.G129E

c.386G>A

6 papers

NM_000344.4

p.Y130H

c.388T>C

1 paper

NM_000344.4

p.Y130D

c.388T>G

15 papers

NM_000344.4

p.Y130C

c.389A>G

1 paper

NM_000344.4

p.V124G

c.371T>G

1 paper

NM_000344.4

p.V124I

c.370G>A