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

25 papers

NM_206933.4

p.R1870W

c.5608C>T

Surrounding Variants

2 papers

NM_206933.4

p.R1870L

c.5609G>T

2 papers

NM_206933.4

p.R1870Q

c.5609G>A

7 papers

NM_206933.4

p.G1871D

c.5612G>A

8 papers

NM_206933.4

p.F1868C

c.5603T>G

2 papers

NM_206933.4

p.F1868fs

c.5602_5603fs

3 papers

NM_206933.4

p.A1872fs

c.5614_5615fs

2 papers

NM_206933.4

p.A1872Fs

c.5614delinsTTAACTTGGCATFs

5 papers

NM_206933.4

p.F1868_G1871delFs

c.5603_5613del11

1 paper

NM_206933.4

p.A1872fs

c.5614_5615fs

2 papers

NM_206933.4

p.T1869_A1872del0

c.5607_5615del9

1 paper

NM_206933.4

p.V1874I

c.5620G>A

1 paper

NM_206933.4

p.K1864_D1865del2

c.5590_5594del6