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.F1583fs

c.4747_4748fs

Surrounding Variants

2 papers

NM_206933.4

p.F1583S

c.4748T>C

1 paper

NM_206933.4

p.D1584H

c.4750G>C

3 papers

NM_206933.4

p.F1583delFs

c.4749delA

2 papers

NM_206933.4

p.F1583fs

c.4747_4748fs

1 paper

NM_206933.4

p.D1584E

c.4752T>G

1 paper

NM_206933.4

p.L1582P

c.4745T>C

1 paper

NM_206933.4

p.P1585L

c.4754C>T

1 paper

NM_206933.4

p.L1582V

c.4744C>G

1 paper

NM_206933.4

p.L1582_F1583insT

c.4744_4748ins3

3 papers

NM_206933.4

p.Q1586*

c.4756C>T

2 papers

NM_206933.4

p.Q1586_G1587ins5

c.4756_4760ins15

1 paper

NM_206933.4

p.Q1586H

c.4758G>T