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

2 papers

NM_000344.4

p.L141_S143delFs

c.422_428del7

Surrounding Variants

3 papers

NM_000344.4

p.D140V

c.419A>T

1 paper

NM_000344.4

p.D140N

c.418G>A

1 paper

NM_000344.4

p.D140H

c.418G>C

1 paper

NM_000344.4

p.D140Y

c.418G>T

1 paper

NM_000344.4

p.S139S

c.417C>A

3 papers

NM_000344.4

p.S139S

c.417C>T

1 paper

NM_000344.4

p.D140_P144del0

c.418_432del15

1 paper

NM_000344.4

p.L141fs

c.421_422fs

2 papers

NM_000344.4

p.L141P

c.422T>C

1 paper

NM_000344.4

p.S143insFs

c.427dupT

2 papers

NM_000344.4

p.S143_I145delFs

c.429_435del7

3 papers

NM_000344.4

p.P144delFs

c.431delC