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.D636_C638delins

c.1907_1912delinsTCACAG

Surrounding Variants

3 papers

NM_206933.4

p.C638G

c.1912T>G

3 papers

NM_206933.4

p.C638F

c.1913G>T

1 paper

NM_206933.4

p.C638delFs

c.1912delA

2 papers

NM_206933.4

p.D636V

c.1907A>T

1 paper

NM_206933.4

p.D636G

c.1907A>G

1 paper

NM_206933.4

p.D636H

c.1906G>C

1 paper

NM_206933.4

p.D636N

c.1906G>A

1 paper

NM_206933.4

p.P640S

c.1918C>T

1 paper

NM_206933.4

p.P640R

c.1919C>G

1 paper

NM_206933.4

p.P640H

c.1919C>A

1 paper

NM_206933.4

p.I635L

c.1903A>T

1 paper

NM_206933.4

p.I635V

c.1903A>G