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.D631E

c.1893T>A

Surrounding Variants

1 paper

NM_206933.4

p.D631E

c.1893T>G

1 paper

NM_206933.4

p.P632S

c.1894C>T

3 papers

NM_206933.4

p.D631G

c.1892A>G

3 papers

NM_206933.4

p.D631H

c.1891G>C

2 papers

NM_206933.4

p.D631N

c.1891G>A

2 papers

NM_206933.4

p.A630V

c.1889C>T

3 papers

NM_206933.4

p.S633L

c.1898C>T

1 paper

NM_206933.4

p.S633insFs

c.1897dupT

2 papers

NM_206933.4

p.S633*

c.1898C>A

1 paper

NM_206933.4

p.G629G

c.1887T>C

2 papers

NM_206933.4

p.A634S

c.1900G>T

2 papers

NM_206933.4

p.G629V

c.1886G>T