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.H273H

c.819T>C

Surrounding Variants

4 papers

NM_000344.4

p.H273_T274insFs

c.819_820insT

13 papers

NM_000344.4

p.H273R

c.818A>G

1 paper

NM_000344.4

p.T274A

c.820A>G

3 papers

NM_000344.4

p.T274fs

c.820_821fs

58 papers

NM_000344.4

p.T274I

c.821C>T

1 paper

NM_000344.4

p.H273Y

c.817C>T

1 paper

NM_000344.4

p.Y272*

c.816T>A

1 paper

NM_000344.4

p.Y272*

c.816T>G

112 papers

NM_000344.4

p.Y272C

c.815A>G

25 papers

NM_000344.4

p.G275S

c.823G>A

4 papers

NM_000344.4

p.G275A

c.824G>C

1 paper

NM_000344.4

p.G275V

c.824G>T