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.E104A

c.311A>C

Surrounding Variants

3 papers

NM_000344.4

p.D105_G106insFs

c.314_317dup4

2 papers

NM_000344.4

p.E104K

c.310G>A

2 papers

NM_000344.4

p.E104insFs

c.312dupA

1 paper

NM_000344.4

p.S103L

c.308C>T

1 paper

NM_000344.4

p.S103P

c.307T>C

16 papers

NM_000344.4

p.W102*

c.306G>A

1 paper

NM_000344.4

p.G106S

c.316G>A

1 paper

NM_000344.4

p.G106R

c.316G>C

1 paper

NM_000344.4

p.G106fs

c.316_317fs

17 papers

NM_000344.4

p.W102*

c.305G>A

1 paper

NM_000344.4

p.W102L

c.305G>T

1 paper

NM_000344.4

p.G106V

c.317G>T