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.S652I

c.1955G>T

Surrounding Variants

2 papers

NM_206933.4

p.S652R

c.1956C>G

2 papers

NM_206933.4

p.S652R

c.1956C>A

1 paper

NM_206933.4

p.S652G

c.1954A>G

2 papers

NM_206933.4

p.S652R

c.1954A>C

1 paper

NM_206933.4

p.S652delFs

c.1956delG

1 paper

NM_206933.4

p.I653S

c.1958T>G

1 paper

NM_206933.4

p.I653N

c.1958T>A

1 paper

NM_206933.4

p.N650_G651delFs

c.1948_1951del4

1 paper

NM_206933.4

p.I653M

c.1959T>G

1 paper

NM_206933.4

p.I653delFs

c.1957_1958delAT

1 paper

NM_206933.4

p.G651S

c.1951G>A

1 paper

NM_206933.4

p.N650K

c.1950T>A