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.L335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_206933.4

p.L335V

c.1003T>G

1 paper

NM_206933.4

p.L335L

c.1003T>C

1 paper

NM_206933.4

p.L335*

c.1004T>A

11 papers

NM_206933.4

p.R334Q

c.1001G>A

48 papers

NM_206933.4

p.R334W

c.1000C>T

2 papers

NM_206933.4

p.N336Y

c.1006A>T

1 paper

NM_206933.4

p.N336S

c.1007A>G

2 papers

NM_206933.4

p.S333L

c.998C>T

14 papers

NM_206933.4

p.S333P

c.997T>C

1 paper

NM_206933.4

p.P337T

c.1009C>A

1 paper

NM_206933.4

p.L335_N336del2

c.1003_1007del6

1 paper

NM_206933.4

p.P337P

c.1011T>C