Varaico: Literature-Extracted Genetic Variants

UTRN

471 papers

RefSeq Summary

This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consis...

Pfam Domains

CHaa 31–136UCSCCalponin homology (CH) domain

CHaa 150–256UCSCCalponin homology (CH) domain

Spectrinaa 309–417UCSCSpectrin repeat

Spectrinaa 418–526UCSCSpectrin repeat

Spectrinaa 798–902UCSCSpectrin repeat

Spectrinaa 1016–1122UCSCSpectrin repeat

Gene Aliases

HGNC Name

utrophin

HGNC Previous Symbol

DMDL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007124.3

p.L2783insFs

c.8347_8348insT

Surrounding Variants

5 papers

NM_007124.3

p.K2782E

c.8344A>G

1 paper

NM_007124.3

p.R2772C

c.8314C>T

1 paper

NM_007124.3

p.V2786fs

c.8356_8357fs

1 paper

NM_007124.3

p.R2791C

c.8371C>T

1 paper

NM_007124.3

p.H2799D

c.8395C>G

1 paper

NM_007124.3

p.S2811fs

c.8431_8432fs

1 paper

NM_007124.3

p.T2812Splc

c.8434+1G>A

1 paper

NM_007124.3

p.D2726H

c.8176G>C

1 paper

NM_007124.3

p.S2712F

c.8135C>T

1 paper

NM_007124.3

p.E2711G

c.8132A>G

1 paper

NM_007124.3

p.M2707I

c.8121G>A

1 paper

NM_007124.3

p.M2707I

c.8121G>C