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.K45Q

c.133A>C

Surrounding Variants

1 paper

NM_000344.4

p.K45T

c.134A>C

1 paper

NM_000344.4

p.K45R

c.134A>G

1 paper

NM_000344.4

p.D44A

c.131A>C

24 papers

NM_000344.4

p.D44V

c.131A>T

2 papers

NM_000344.4

p.D44N

c.130G>A

1 paper

NM_000344.4

p.A46ins4

c.136_137ins12

1 paper

NM_000344.4

p.Y43insFs

c.129dupT

1 paper

NM_000344.4

p.V47M

c.139G>A

1 paper

NM_000344.4

p.Y43_A46delFs

c.128_138del11

3 papers

NM_000344.4

p.A42T

c.124G>A

6 papers

NM_000344.4

p.A42insFs

c.124_125insT

1 paper

NM_000344.4

p.K41T

c.122A>C