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

1–12 of 7600 variants

308 papers

NM_206933.4

p.E767delFs

c.2299delC

271 papers

NM_206933.4

p.C759F

c.2276G>T

154 papers

NM_206933.4

p.E767fs

c.2299_2300fs

129 papers

NM_206933.4

p.W3955*

c.11864G>A

127 papers

NM_206933.4

p.C934W

c.2802T>G

118 papers

NM_206933.4

p.W3955*

c.11865G>A

101 papers

NM_206933.4

p.R2853Splc

c.8559-2A>G

93 papers

NM_206933.4

p.K2532Splc

c.7595-2144A>G

90 papers

NM_206933.4

p.R4192H

c.12575G>A

77 papers

NM_206933.4

p.R3719H

c.11156G>A

73 papers

NM_206933.4

p.C419F

c.1256G>T

71 papers

NM_206933.4

p.C3358Y

c.10073G>A