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.Q15H

c.45G>C

Surrounding Variants

2 papers

NM_000344.4

p.Q15Q

c.45G>A

1 paper

NM_000344.4

p.Q15H

c.45G>T

1 paper

NM_000344.4

p.Q15insFs

c.44_45insG

1 paper

NM_000344.4

p.Q15P

c.44A>C

1 paper

NM_000344.4

p.Q15R

c.44A>G

2 papers

NM_000344.4

p.E16_V19insFs

c.48_55dup8

2 papers

NM_000344.4

p.E16A

c.47A>C

1 paper

NM_000344.4

p.E16G

c.47A>G

1 paper

NM_000344.4

p.E16V

c.47A>T

21 papers

NM_000344.4

p.Q15*

c.43C>T

2 papers

NM_000344.4

p.E14Fs

c.41_42delinsCFs

2 papers

NM_000344.4

p.D17A

c.50A>C