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.N150_N151insC

c.448_452ins3

Surrounding Variants

1 paper

NM_000344.4

p.N151S

c.452A>G

1 paper

NM_000344.4

p.V148G

c.443T>G

2 papers

NM_000344.4

p.I152I

c.456A>C

2 papers

NM_000344.4

p.E147fs

c.439_440fs

1 paper

NM_000344.4

p.N155_Q157del3

c.463_470del9

1 paper

NM_000344.4

p.Q154*

c.460C>T

2 papers

NM_000344.4

p.N155delFs

c.463_464delAA

7 papers

NM_000344.4

p.E147_V148delFs

c.439_443del5

7 papers

NM_000344.4

p.Q154Q

c.462A>G

1 paper

NM_000344.4

p.N155fs

c.463_464fs

1 paper

NM_000344.4

p.P144Q

c.431C>A

3 papers

NM_000344.4

p.P144fs

c.430_431fs