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

2 papers

NM_206933.4

p.R2875G

c.8623C>G

Surrounding Variants

13 papers

NM_206933.4

p.R2875Q

c.8624G>A

3 papers

NM_206933.4

p.W2876*

c.8627G>A

1 paper

NM_206933.4

p.L2873*

c.8618T>G

1 paper

NM_206933.4

p.L2873*

c.8618T>A

3 papers

NM_206933.4

p.W2876*

c.8628G>A

1 paper

NM_206933.4

p.D2872Y

c.8614G>T

1 paper

NM_206933.4

p.W2876_H2877delFs

c.8628_8631del4

6 papers

NM_206933.4

p.P2870L

c.8609C>T

1 paper

NM_206933.4

p.P2870Q

c.8609C>A

2 papers

NM_206933.4

p.N2878_I2879del2

c.8632_8636del6

1 paper

NM_206933.4

p.Y2880fs

c.8638_8639fs

6 papers

NM_206933.4

p.S2881fs

c.8641_8642fs