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.K2890M

c.8669A>T

Surrounding Variants

1 paper

NM_206933.4

p.G2891S

c.8671G>A

1 paper

NM_206933.4

p.G2891V

c.8672G>T

1 paper

NM_206933.4

p.Y2887*

c.8661T>G

1 paper

NM_206933.4

p.Y2887*

c.8661T>A

2 papers

NM_206933.4

p.Y2887insFs

c.8659dupT

2 papers

NM_206933.4

p.Y2887fs

c.8659_8660fs

2 papers

NM_206933.4

p.R2894fs

c.8680_8681fs

6 papers

NM_206933.4

p.R2894K

c.8681G>A

1 paper

NM_206933.4

p.R2894Splc

c.8681+1G>T

1 paper

NM_206933.4

p.R2894Splc

c.8681+1G>C

1 paper

NM_206933.4

p.R2894Splc

c.8681+1G>A

1 paper

NM_206933.4

p.S2893_R2894del1

c.8679_8681delCTG