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

39 papers

NM_206933.4

p.P3272L

c.9815C>T

Surrounding Variants

1 paper

NM_206933.4

p.P3272P

c.9816G>A

1 paper

NM_206933.4

p.M3271I

c.9813G>T

1 paper

NM_206933.4

p.M3271I

c.9813G>C

2 papers

NM_206933.4

p.M3271I

c.9813G>A

5 papers

NM_206933.4

p.M3271delFs

c.9811delT

6 papers

NM_206933.4

p.M3271fs

c.9811_9812fs

1 paper

NM_206933.4

p.I3263_G3269del0

c.9787_9807del21

1 paper

NM_206933.4

p.G3269D

c.9806G>A

1 paper

NM_206933.4

p.G3269C

c.9805G>T

1 paper

NM_206933.4

p.S3276*

c.9827C>G

1 paper

NM_206933.4

p.S3276*

c.9827C>A

6 papers

NM_206933.4

p.C3267W

c.9801C>G