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

2 papers

NM_206933.4

p.L4132delFs

c.12394delG

Surrounding Variants

1 paper

NM_206933.4

p.L4132fs

c.12394_12395fs

2 papers

NM_206933.4

p.L4132fs

c.12394_12395fs

1 paper

NM_206933.4

p.A4134_C4135insTC

c.12400_12404ins6

1 paper

NM_206933.4

p.A4134T

c.12400G>A

2 papers

NM_206933.4

p.L4130delFs

c.12388delG

1 paper

NM_206933.4

p.L4130fs

c.12388_12389fs

1 paper

NM_206933.4

p.C4135R

c.12403T>C

2 papers

NM_206933.4

p.C4135F

c.12404G>T

2 papers

NM_206933.4

p.T4136I

c.12407C>T

1 paper

NM_206933.4

p.Y4128C

c.12383A>G

3 papers

NM_206933.4

p.L4127_Y4128delFs

c.12381_12382delAG

2 papers

NM_206933.4

p.Y4128fs

c.12382_12383fs