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.Y384C

c.1151A>G

Surrounding Variants

1 paper

NM_206933.4

p.Y384delFs

c.1150delA

1 paper

NM_206933.4

p.Y384*

c.1152T>G

1 paper

NM_206933.4

p.Y384*

c.1152T>A

1 paper

NM_206933.4

p.Y384N

c.1150T>A

1 paper

NM_206933.4

p.Y384fs

c.1150_1151fs

1 paper

NM_206933.4

p.I386V

c.1156A>G

1 paper

NM_206933.4

p.V382A

c.1145T>C

1 paper

NM_206933.4

p.I386N

c.1157T>A

3 papers

NM_206933.4

p.V382L

c.1144G>T

2 papers

NM_206933.4

p.V382L

c.1144G>C

5 papers

NM_206933.4

p.V382M

c.1144G>A

1 paper

NM_206933.4

p.Q381_V382Splc

c.1144-1G>A