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.Q4158*

c.12472C>T

Surrounding Variants

1 paper

NM_206933.4

p.A4153V

c.12458C>T

3 papers

NM_206933.4

p.A4153delFs

c.12457delC

3 papers

NM_206933.4

p.A4153T

c.12457G>A

3 papers

NM_206933.4

p.A4153fs

c.12457_12458fs

1 paper

NM_206933.4

p.D4151E

c.12453T>G

1 paper

NM_206933.4

p.D4151E

c.12453T>A

2 papers

NM_206933.4

p.H4164delFs

c.12490delG

2 papers

NM_206933.4

p.H4164fs

c.12490_12491fs

1 paper

NM_206933.4

p.S4165insFs

c.12495dupT

1 paper

NM_206933.4

p.V4166fs

c.12496_12497fs

5 papers

NM_206933.4

p.T4150A

c.12448A>G

1 paper

NM_206933.4

p.W4149C

c.12447G>T