Varaico: Literature-Extracted Genetic Variants

DMD

2,527 papers

RefSeq Summary

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of t...

Pfam Domains

Spectrinaa 11–117UCSCSpectrin repeat

CHaa 15–120UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

dystrophin

HGNC Previous Symbol

MRX85

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004006.3

p.L3401L

c.10203A>G

Surrounding Variants

1 paper

NM_004006.3

p.L3401delFs

c.10203delT

1 paper

NM_004006.3

p.G3403E

c.10208G>A

1 paper

NM_004006.3

p.T3399S

c.10196C>G

1 paper

NM_004006.3

p.D3404fs

c.10210_10211fs

1 paper

NM_004006.3

p.T3399S

c.10195A>T

1 paper

NM_004006.3

p.D3404G

c.10211A>G

1 paper

NM_004006.3

p.T3399A

c.10195A>G

1 paper

NM_004006.3

p.D3404insFs

c.10210dupG

2 papers

NM_004006.3

p.D3404E

c.10212C>G

2 papers

NM_004006.3

p.D3404E

c.10212C>A

1 paper

NM_004006.3

p.N3405D

c.10213A>G

1 paper

NM_004006.3

p.Q3398*

c.10192C>T