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.A38insFs

c.113dupC

Surrounding Variants

1 paper

NM_000344.4

p.A38P

c.112G>C

1 paper

NM_000344.4

p.A38S

c.112G>T

29 papers

NM_000344.4

p.T37T

c.111A>G

1 paper

NM_000344.4

p.A38E

c.113C>A

1 paper

NM_000344.4

p.A38A

c.114A>G

1 paper

NM_000344.4

p.T37K

c.110C>A

1 paper

NM_000344.4

p.T37P

c.109A>C

2 papers

NM_000344.4

p.T37fs

c.109_110fs

4 papers

NM_000344.4

p.T37insFs

c.109dupA

1 paper

NM_000344.4

p.D36A

c.107A>C

1 paper

NM_000344.4

p.D35A

c.104A>C

1 paper

NM_000344.4

p.K41E

c.121A>G