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

1 paper

NM_206933.4

p.L3937F

c.11809C>T

Surrounding Variants

1 paper

NM_206933.4

p.Y3938fs

c.11812_11813fs

14 papers

NM_206933.4

p.T3936P

c.11806A>C

1 paper

NM_206933.4

p.Y3938C

c.11813A>G

1 paper

NM_206933.4

p.L3937_Y3938delFs

c.11811_11812delAG

1 paper

NM_206933.4

p.Y3938Y

c.11814C>T

2 papers

NM_206933.4

p.Y3938fs

c.11812_11813fs

11 papers

NM_206933.4

p.E3939K

c.11815G>A

2 papers

NM_206933.4

p.Y3940S

c.11819A>C

3 papers

NM_206933.4

p.R3941W

c.11821C>T

2 papers

NM_206933.4

p.R3941Q

c.11822G>A

1 paper

NM_206933.4

p.L3932R

c.11795T>G

1 paper

NM_206933.4

p.E3939_R3941insFs

c.11816_11822dup7