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.D727A

c.2180A>C

Surrounding Variants

2 papers

NM_206933.4

p.D727N

c.2179G>A

1 paper

NM_206933.4

p.R725_C726del2

c.2173_2177del6

1 paper

NM_206933.4

p.D727insFs

c.2181dupT

1 paper

NM_206933.4

p.C726G

c.2176T>G

2 papers

NM_206933.4

p.C726R

c.2176T>C

1 paper

NM_206933.4

p.G723_R725delFs

c.2168_2174del7

1 paper

NM_206933.4

p.R725M

c.2174G>T

1 paper

NM_206933.4

p.C729Y

c.2186G>A

1 paper

NM_206933.4

p.R725K

c.2174G>A

13 papers

NM_206933.4

p.C729*

c.2187C>A

1 paper

NM_206933.4

p.R725W

c.2173A>T

1 paper

NM_206933.4

p.G723_L724delFs

c.2168_2171del4