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

6 papers

NM_206933.4

p.R4121C

c.12361C>T

Surrounding Variants

1 paper

NM_206933.4

p.R4121H

c.12362G>A

2 papers

NM_206933.4

p.R4120H

c.12359G>A

7 papers

NM_206933.4

p.R4120C

c.12358C>T

1 paper

NM_206933.4

p.F4117L

c.12351T>G

1 paper

NM_206933.4

p.F4117L

c.12351T>A

2 papers

NM_206933.4

p.P4124L

c.12371C>T

2 papers

NM_206933.4

p.P4124R

c.12371C>G

1 paper

NM_206933.4

p.F4117S

c.12350T>C

1 paper

NM_206933.4

p.F4117L

c.12349T>C

1 paper

NM_206933.4

p.F4125insFs

c.12374_12375insAT

1 paper

NM_206933.4

p.F4125fs

c.12373_12374fs

7 papers

NM_206933.4

p.R4115H

c.12344G>A