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.V2838_I2839del2

c.8512_8516del6

Surrounding Variants

1 paper

NM_206933.4

p.W2841G

c.8521T>G

2 papers

NM_206933.4

p.W2841R

c.8521T>C

2 papers

NM_206933.4

p.W2841R

c.8521T>A

10 papers

NM_206933.4

p.W2841*

c.8522G>A

9 papers

NM_206933.4

p.W2841*

c.8523G>A

1 paper

NM_206933.4

p.Q2842Q

c.8526A>G

1 paper

NM_206933.4

p.P2843A

c.8527C>G

1 paper

NM_206933.4

p.P2843T

c.8527C>A

1 paper

NM_206933.4

p.P2843Q

c.8528C>A

1 paper

NM_206933.4

p.P2844S

c.8530C>T

2 papers

NM_206933.4

p.P2844L

c.8531C>T

1 paper

NM_206933.4

p.S2835P

c.8503T>C