Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.D44A

SMN2

490 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. ...

Gene Aliases

HGNC Name

survival of motor neuron 2, centromeric

HGNC Alias Symbols

BCD541; SMNC; GEMIN1; TDRD16B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017411.4
p.D44A
c.131A>C
Surrounding Variants
1 paper
NM_017411.4
p.D44_K45insFs
c.132_133insTT
11 papers
NM_017411.4
p.D44V
c.131A>T
1 paper
NM_017411.4
p.K45Q
c.133A>C
1 paper
NM_017411.4
p.Y43insFs
c.129dupT
1 paper
NM_017411.4
p.Y43_A46delFs
c.128_138del11
1 paper
NM_017411.4
p.A42T
c.124G>A
4 papers
NM_017411.4
p.A42insFs
c.124_125insT
1 paper
NM_017411.4
p.I40delFs
c.120delA
18 papers
NM_017411.4
p.T37T
c.111A>G
1 paper
NM_017411.4
p.T37fs
c.109_110fs
1 paper
NM_017411.4
p.K51_H52Splc
c.153+1G>A
1 paper
NM_017411.4
p.D36D
c.108T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."