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.P2747Q

c.8240C>A

Surrounding Variants

1 paper

NM_206933.4

p.P2747delFs

c.8240delG

1 paper

NM_206933.4

p.P2747fs

c.8239_8240fs

1 paper

NM_206933.4

p.I2749V

c.8245A>G

1 paper

NM_206933.4

p.W2744delFs

c.8232delC

32 papers

NM_206933.4

p.W2744C

c.8232G>T

33 papers

NM_206933.4

p.W2744C

c.8232G>C

5 papers

NM_206933.4

p.W2744*

c.8232G>A

5 papers

NM_206933.4

p.W2744*

c.8231G>A

41 papers

NM_206933.4

p.G2752R

c.8254G>C

44 papers

NM_206933.4

p.G2752R

c.8254G>A

1 paper

NM_206933.4

p.V2742delFs

c.8224delC

1 paper

NM_206933.4

p.G2752E

c.8255G>A