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.P248delFs

c.744delC

Surrounding Variants

1 paper

NM_000344.4

p.P247fs

c.739_740fs

5 papers

NM_000344.4

p.P247insFs

c.740dupC

1 paper

NM_000344.4

p.P248P

c.744C>T

3 papers

NM_000344.4

p.I249fs

c.745_746fs

1 paper

NM_000344.4

p.P246insFs

c.736_737insA

3 papers

NM_000344.4

p.P246fs

c.736_737fs

12 papers

NM_000344.4

p.P245L

c.734C>T

1 paper

NM_000344.4

p.P245fs

c.733_734fs

8 papers

NM_000344.4

p.P244L

c.731C>T

1 paper

NM_000344.4

p.P251S

c.751C>T

2 papers

NM_000344.4

p.P251L

c.752C>T

4 papers

NM_000344.4

p.P245insFs

c.734_735insC