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.P2628fs

c.7882_7883fs

Surrounding Variants

4 papers

NM_206933.4

p.I2627T

c.7880T>C

2 papers

NM_206933.4

p.P2628insFs

c.7883dupC

1 paper

NM_206933.4

p.P2628fs

c.7882_7883fs

3 papers

NM_206933.4

p.P2628delFs

c.7883delG

2 papers

NM_206933.4

p.I2627F

c.7879A>T

1 paper

NM_206933.4

p.G2626G

c.7878G>C

1 paper

NM_206933.4

p.G2626E

c.7877G>A

1 paper

NM_206933.4

p.G2626_I2627insTTT

c.7876_7880ins9

1 paper

NM_206933.4

p.P2630fs

c.7888_7889fs

1 paper

NM_206933.4

p.P2630R

c.7889C>G

1 paper

NM_206933.4

p.P2630delFs

c.7889delG

1 paper

NM_206933.4

p.E2625*

c.7873G>T