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

3 papers

NM_000344.4

p.P144fs

c.430_431fs

Surrounding Variants

1 paper

NM_000344.4

p.P144Q

c.431C>A

3 papers

NM_000344.4

p.P144delFs

c.431delC

1 paper

NM_000344.4

p.S143fs

c.427_428fs

2 papers

NM_000344.4

p.S143_I145delFs

c.429_435del7

1 paper

NM_000344.4

p.S143insFs

c.427dupT

7 papers

NM_000344.4

p.E147_V148delFs

c.439_443del5

2 papers

NM_000344.4

p.L141P

c.422T>C

1 paper

NM_000344.4

p.L141fs

c.421_422fs

2 papers

NM_000344.4

p.E147fs

c.439_440fs

3 papers

NM_000344.4

p.D140V

c.419A>T

2 papers

NM_000344.4

p.L141_S143delFs

c.422_428del7

1 paper

NM_000344.4

p.D140N

c.418G>A