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.P321L

c.962C>T

Surrounding Variants

1 paper

NM_206933.4

p.P321P

c.963T>G

1 paper

NM_206933.4

p.I320_P321insFs

c.960_961insCC

1 paper

NM_206933.4

p.I320delFs

c.958delT

1 paper

NM_206933.4

p.D323insFs

c.967_968insC

1 paper

NM_206933.4

p.D323_A324insA

c.967_971ins3

1 paper

NM_206933.4

p.D323N

c.967G>A

22 papers

NM_206933.4

p.C319Y

c.956G>A

2 papers

NM_206933.4

p.D323G

c.968A>G

1 paper

NM_206933.4

p.A315_Y318del4

c.943_953del12

1 paper

NM_206933.4

p.A324T

c.970G>A

3 papers

NM_206933.4

p.Y318fs

c.952_953fs

1 paper

NM_206933.4

p.Y318C

c.953A>G