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

3 papers

NM_206933.4

p.T4169P

c.12505A>C

Surrounding Variants

7 papers

NM_206933.4

p.T4169A

c.12505A>G

3 papers

NM_206933.4

p.S4168Y

c.12503C>A

1 paper

NM_206933.4

p.S4168_T4169insT

c.12502_12506ins3

1 paper

NM_206933.4

p.V4171G

c.12512T>G

1 paper

NM_206933.4

p.S4165insFs

c.12495dupT

1 paper

NM_206933.4

p.V4166fs

c.12496_12497fs

2 papers

NM_206933.4

p.H4164fs

c.12490_12491fs

2 papers

NM_206933.4

p.H4164delFs

c.12490delG

1 paper

NM_206933.4

p.S4174R

c.12520A>C

1 paper

NM_206933.4

p.S4174R

c.12522C>G

1 paper

NM_206933.4

p.S4174R

c.12522C>A

5 papers

NM_206933.4

p.W4175G

c.12523T>G