Varaico: Literature-Extracted Genetic Variants

USH2A

1,687 papers

RefSeq Summary

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in developmen...

Pfam Domains

Laminin_G_3aa 130–286UCSCConcanavalin A-like lectin/glucanases superfamily

Laminin_Naa 293–516UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 518–566UCSCLaminin EGF domain

EGF_lamininaa 575–634UCSCLaminin EGF domain

EGF_lamininaa 641–691UCSCLaminin EGF domain

EGF_lamininaa 694–744UCSCLaminin EGF domain

Gene Aliases

HGNC Name

usherin

HGNC Previous Symbol

USH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_206933.4

p.S3947F

c.11840C>T

Surrounding Variants

7 papers

NM_206933.4

p.A3944D

c.11831C>A

1 paper

NM_206933.4

p.R3943T

c.11828G>C

1 paper

NM_206933.4

p.E3952A

c.11855A>C

1 paper

NM_206933.4

p.V3942fs

c.11824_11825fs

1 paper

NM_206933.4

p.E3939_R3941insFs

c.11816_11822dup7

2 papers

NM_206933.4

p.R3941Q

c.11822G>A

1 paper

NM_206933.4

p.S3953N

c.11858G>A

3 papers

NM_206933.4

p.R3941W

c.11821C>T

1 paper

NM_206933.4

p.L3954Q

c.11861T>A

2 papers

NM_206933.4

p.Y3940S

c.11819A>C

129 papers

NM_206933.4

p.W3955*

c.11864G>A

118 papers

NM_206933.4

p.W3955*

c.11865G>A