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

3 papers

NM_206933.4

p.N346D

c.1036A>G

Surrounding Variants

50 papers

NM_206933.4

p.N346H

c.1036A>C

1 paper

NM_206933.4

p.V345insFs

c.1035dupC

2 papers

NM_206933.4

p.N346S

c.1037A>G

1 paper

NM_206933.4

p.V345G

c.1034T>G

5 papers

NM_206933.4

p.D347H

c.1039G>C

1 paper

NM_206933.4

p.V345L

c.1033G>C

1 paper

NM_206933.4

p.D347N

c.1039G>A

1 paper

NM_206933.4

p.V345I

c.1033G>A

1 paper

NM_206933.4

p.F344delFs

c.1031_1032delAA

8 papers

NM_206933.4

p.D347G

c.1040A>G

1 paper

NM_206933.4

p.F344S

c.1031T>C

2 papers

NM_206933.4

p.F344fs

c.1030_1031fs