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.V2791L

c.8371G>C

Surrounding Variants

2 papers

NM_206933.4

p.V2791A

c.8372T>C

1 paper

NM_206933.4

p.I2793T

c.8378T>C

1 paper

NM_206933.4

p.V2794delFs

c.8380delC

1 paper

NM_206933.4

p.T2787S

c.8360C>G

4 papers

NM_206933.4

p.A2795S

c.8383G>T

1 paper

NM_206933.4

p.A2795_C2796insT

c.8383_8387ins3

1 paper

NM_206933.4

p.T2787S

c.8359A>T

1 paper

NM_206933.4

p.A2795G

c.8384C>G

5 papers

NM_206933.4

p.F2786S

c.8357T>C

1 paper

NM_206933.4

p.C2796C

c.8388C>T

2 papers

NM_206933.4

p.S2797P

c.8389T>C

2 papers

NM_206933.4

p.I2784S

c.8351T>G