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

5 papers

NM_206933.4

p.Y3534C

c.10601A>G

Surrounding Variants

3 papers

NM_206933.4

p.L3536R

c.10607T>G

1 paper

NM_206933.4

p.I3532fs

c.10594_10595fs

2 papers

NM_206933.4

p.I3531delFs

c.10593delA

12 papers

NM_206933.4

p.R3538*

c.10612C>T

1 paper

NM_206933.4

p.R3538P

c.10613G>C

2 papers

NM_206933.4

p.R3538Q

c.10613G>A

1 paper

NM_206933.4

p.L3537_R3538Fs

c.10609_10614delinsTCAAAFs

3 papers

NM_206933.4

p.P3530T

c.10588C>A

1 paper

NM_206933.4

p.R3538Fs

c.10614delinsTCAAAFs

1 paper

NM_206933.4

p.G3529Splc

c.10586-1G>T

3 papers

NM_206933.4

p.G3529Splc

c.10586-1G>C

5 papers

NM_206933.4

p.G3529S

c.10585G>A