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.S2809R

c.8425A>C

Surrounding Variants

1 paper

NM_206933.4

p.E2808E

c.8424G>A

1 paper

NM_206933.4

p.T2807I

c.8420C>T

7 papers

NM_206933.4

p.P2811T

c.8431C>A

1 paper

NM_206933.4

p.C2806F

c.8417G>T

2 papers

NM_206933.4

p.T2812fs

c.8434_8435fs

1 paper

NM_206933.4

p.T2812fs

c.8434_8435fs

4 papers

NM_206933.4

p.T2812_Y2813delFs

c.8435_8438del4

3 papers

NM_206933.4

p.V2814I

c.8440G>A

1 paper

NM_206933.4

p.T2815fs

c.8443_8444fs

1 paper

NM_206933.4

p.T2815A

c.8443A>G

3 papers

NM_206933.4

p.V2814_T2815insFs

c.8442_8443insT

1 paper

NM_206933.4

p.T2816delFs

c.8448delA