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

48 papers

NM_206933.4

p.R334W

c.1000C>T

Surrounding Variants

11 papers

NM_206933.4

p.R334Q

c.1001G>A

2 papers

NM_206933.4

p.S333L

c.998C>T

1 paper

NM_206933.4

p.L335V

c.1003T>G

14 papers

NM_206933.4

p.S333P

c.997T>C

1 paper

NM_206933.4

p.L335L

c.1003T>C

1 paper

NM_206933.4

p.L335Fs

c.1003delinsGAFs

1 paper

NM_206933.4

p.L335*

c.1004T>A

1 paper

NM_206933.4

p.V332E

c.995T>A

2 papers

NM_206933.4

p.R331_V332delFs

c.993_994delCT

1 paper

NM_206933.4

p.V332M

c.994G>A

2 papers

NM_206933.4

p.N336Y

c.1006A>T

1 paper

NM_206933.4

p.N336S

c.1007A>G