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

93 papers

NM_206933.4

p.K2532Splc

c.7595-2144A>G

Surrounding Variants

3 papers

NM_206933.4

p.K2532Splc

c.7595-8C>G

17 papers

NM_206933.4

p.K2532Splc

c.7595-3C>G

20 papers

NM_206933.4

p.K2532fs

c.7594_7595fs

5 papers

NM_206933.4

p.P2533fs

c.7597_7598fs

1 paper

NM_206933.4

p.V2536L

c.7606G>T

1 paper

NM_206933.4

p.V2536I

c.7606G>A

1 paper

NM_206933.4

p.V2536A

c.7607T>C

1 paper

NM_206933.4

p.V2537fs

c.7609_7610fs

1 paper

NM_206933.4

p.V2536delFs

c.7608delT

1 paper

NM_206933.4

p.P2538fs

c.7612_7613fs

1 paper

NM_206933.4

p.P2538delFs

c.7613delG

7 papers

NM_206933.4

p.P2539L

c.7616C>T