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.P433S

c.1297C>T

Surrounding Variants

1 paper

NM_206933.4

p.P433H

c.1298C>A

1 paper

NM_206933.4

p.K432_P433delFs

c.1296_1297delGT

1 paper

NM_206933.4

p.D434V

c.1301A>T

1 paper

NM_206933.4

p.D434delFs

c.1301_1302delAT

1 paper

NM_206933.4

p.D429insFs

c.1287dupT

1 paper

NM_206933.4

p.S435F

c.1304C>T

1 paper

NM_206933.4

p.S435Y

c.1304C>A

1 paper

NM_206933.4

p.K432_S435del4

c.1294_1304del12

1 paper

NM_206933.4

p.V436A

c.1307T>C

1 paper

NM_206933.4

p.P433_V436insFs

c.1299_1306dup8

2 papers

NM_206933.4

p.G428E

c.1283G>A

1 paper

NM_206933.4

p.N427_G428del1

c.1280_1282delCAT