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.L2755V

c.8263C>G

Surrounding Variants

1 paper

NM_206933.4

p.I2754fs

c.8260_8261fs

2 papers

NM_206933.4

p.I2754delFs

c.8261delA

1 paper

NM_206933.4

p.S2756fs

c.8266_8267fs

1 paper

NM_206933.4

p.S2756delFs

c.8266delT

1 paper

NM_206933.4

p.S2756fs

c.8266_8267fs

1 paper

NM_206933.4

p.S2756delFs

c.8268delG

2 papers

NM_206933.4

p.D2753N

c.8257G>A

2 papers

NM_206933.4

p.Y2757*

c.8271T>G

2 papers

NM_206933.4

p.Y2757*

c.8271T>A

1 paper

NM_206933.4

p.G2752E

c.8255G>A

2 papers

NM_206933.4

p.E2758*

c.8272G>T

41 papers

NM_206933.4

p.G2752R

c.8254G>C