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

6 papers

NM_206933.4

p.V4190A

c.12569T>C

Surrounding Variants

2 papers

NM_206933.4

p.V4190E

c.12569T>A

36 papers

NM_206933.4

p.R4192C

c.12574C>T

1 paper

NM_206933.4

p.R4192G

c.12574C>G

90 papers

NM_206933.4

p.R4192H

c.12575G>A

2 papers

NM_206933.4

p.Y4188C

c.12563A>G

11 papers

NM_206933.4

p.R4187H

c.12560G>A

2 papers

NM_206933.4

p.R4187C

c.12559C>T

8 papers

NM_206933.4

p.C4194R

c.12580T>C

1 paper

NM_206933.4

p.I4186I

c.12558T>C

1 paper

NM_206933.4

p.C4194S

c.12580T>A

1 paper

NM_206933.4

p.I4186T

c.12557T>C

1 paper

NM_206933.4

p.C4194S

c.12581G>C