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.L1892P

c.5675T>C

Surrounding Variants

2 papers

NM_206933.4

p.S1893*

c.5678C>G

2 papers

NM_206933.4

p.S1893*

c.5678C>A

1 paper

NM_206933.4

p.G1890E

c.5669G>A

3 papers

NM_206933.4

p.G1890*

c.5668G>T

1 paper

NM_206933.4

p.D1895Y

c.5683G>T

1 paper

NM_206933.4

p.S1893_T1894delFs

c.5677_5681del5

7 papers

NM_206933.4

p.D1889G

c.5666A>G

1 paper

NM_206933.4

p.D1889H

c.5665G>C

1 paper

NM_206933.4

p.D1895D

c.5685C>T

1 paper

NM_206933.4

p.L1888P

c.5663T>C

1 paper

NM_206933.4

p.V1898I

c.5692G>A

3 papers

NM_206933.4

p.R1885*

c.5653A>T