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.N848delFs

c.2543delT

Surrounding Variants

1 paper

NM_206933.4

p.C847_N848delFs

c.2541_2542delTG

10 papers

NM_206933.4

p.C849Y

c.2546G>A

2 papers

NM_206933.4

p.N848D

c.2542A>G

6 papers

NM_206933.4

p.C847*

c.2541C>A

1 paper

NM_206933.4

p.D850fs

c.2548_2549fs

1 paper

NM_206933.4

p.D850N

c.2548G>A

1 paper

NM_206933.4

p.C847R

c.2539T>C

1 paper

NM_206933.4

p.C847S

c.2539T>A

1 paper

NM_206933.4

p.P846fs

c.2536_2537fs

1 paper

NM_206933.4

p.P846L

c.2537C>T

1 paper

NM_206933.4

p.K851E

c.2551A>G

1 paper

NM_206933.4

p.P846S

c.2536C>T