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.A1877_S1878ins4

c.5629_5633ins12

Surrounding Variants

1 paper

NM_206933.4

p.A1877P

c.5629G>C

1 paper

NM_206933.4

p.L1876M

c.5626T>A

1 paper

NM_206933.4

p.S1878F

c.5633C>T

1 paper

NM_206933.4

p.N1875K

c.5625C>G

1 paper

NM_206933.4

p.N1875K

c.5625C>A

3 papers

NM_206933.4

p.N1875S

c.5624A>G

1 paper

NM_206933.4

p.V1874V

c.5622T>C

1 paper

NM_206933.4

p.A1872_V1873del2

c.5614_5618del6

4 papers

NM_206933.4

p.A1872_V1874delFs

c.5614_5620del7

1 paper

NM_206933.4

p.V1874I

c.5620G>A

1 paper

NM_206933.4

p.A1872fs

c.5614_5615fs

2 papers

NM_206933.4

p.T1869_A1872del0

c.5607_5615del9