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.G6S

c.16G>A

Surrounding Variants

1 paper

NM_000344.4

p.S5R

c.15C>G

1 paper

NM_000344.4

p.G6_G7delFs

c.18_21del4

3 papers

NM_000344.4

p.G7delFs

c.19delG

1 paper

NM_000344.4

p.G7_S8del2

c.19_23del6

3 papers

NM_000344.4

p.G7_G9del3

c.19_26del9

2 papers

NM_000344.4

p.S5N

c.14G>A

1 paper

NM_000344.4

p.S5delins

c.14delinsCCCT

1 paper

NM_000344.4

p.S5R

c.13A>C

1 paper

NM_000344.4

p.S5G

c.13A>G

1 paper

NM_000344.4

p.S5C

c.13A>T

1 paper

NM_000344.4

p.S5fs

c.13_14fs

1 paper

NM_000344.4

p.G7S

c.19G>A