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

80 papers

NM_000344.4

p.E134K

c.400G>A

Surrounding Variants

4 papers

NM_000344.4

p.E134fs

c.400_401fs

2 papers

NM_000344.4

p.R133fs

c.397_398fs

1 paper

NM_000344.4

p.R133G

c.397A>G

2 papers

NM_000344.4

p.E135K

c.403G>A

3 papers

NM_000344.4

p.E134delFs

c.401_402delAG

25 papers

NM_000344.4

p.R133_E134delFs

c.399_402del4

2 papers

NM_000344.4

p.N132T

c.395A>C

1 paper

NM_000344.4

p.N132S

c.395A>G

1 paper

NM_000344.4

p.N132D

c.394A>G

1 paper

NM_000344.4

p.N137insFs

c.410dupA

16 papers

NM_000344.4

p.Q136E

c.406C>G

1 paper

NM_000344.4

p.G131insFs

c.393dupA