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

7 papers

NM_000344.4

p.R22_R23insA

c.64_68ins3

Surrounding Variants

1 paper

NM_000344.4

p.F21L

c.63C>A

1 paper

NM_000344.4

p.F21L

c.63C>G

1 paper

NM_000344.4

p.R22L

c.65G>T

1 paper

NM_000344.4

p.F21L

c.61T>C

1 paper

NM_000344.4

p.F21_G24insFs

c.62_71dup10

2 papers

NM_000344.4

p.L20L

c.58C>T

1 paper

NM_000344.4

p.V19G

c.56T>G

1 paper

NM_000344.4

p.L20_R23delFs

c.58_68del11

1 paper

NM_000344.4

p.T25A

c.73A>G

2 papers

NM_000344.4

p.V19M

c.55G>A

3 papers

NM_000344.4

p.V19fs

c.55_56fs

7 papers

NM_000344.4

p.V19delFs

c.56delT