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.A1883D

c.5648C>A

Surrounding Variants

1 paper

NM_206933.4

p.G1882C

c.5644G>T

1 paper

NM_206933.4

p.S1881S

c.5643C>T

3 papers

NM_206933.4

p.R1885*

c.5653A>T

1 paper

NM_206933.4

p.L1888P

c.5663T>C

1 paper

NM_206933.4

p.S1878F

c.5633C>T

1 paper

NM_206933.4

p.D1889H

c.5665G>C

7 papers

NM_206933.4

p.D1889G

c.5666A>G

1 paper

NM_206933.4

p.A1877_S1878ins4

c.5629_5633ins12

1 paper

NM_206933.4

p.A1877P

c.5629G>C

3 papers

NM_206933.4

p.G1890*

c.5668G>T

1 paper

NM_206933.4

p.G1890E

c.5669G>A

1 paper

NM_206933.4

p.L1876M

c.5626T>A