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.K402N

c.1206G>C

Surrounding Variants

1 paper

NM_206933.4

p.K402N

c.1206G>T

1 paper

NM_206933.4

p.K402R

c.1205A>G

1 paper

NM_206933.4

p.K402T

c.1205A>C

1 paper

NM_206933.4

p.K402insFs

c.1206dupG

1 paper

NM_206933.4

p.R401M

c.1202G>T

1 paper

NM_206933.4

p.E404K

c.1210G>A

1 paper

NM_206933.4

p.R401K

c.1202G>A

1 paper

NM_206933.4

p.E404V

c.1211A>T

1 paper

NM_206933.4

p.P394_E404delFs

c.1180_1210del31

16 papers

NM_206933.4

p.N405fs

c.1213_1214fs

1 paper

NM_206933.4

p.N405D

c.1213A>G

1 paper

NM_206933.4

p.Q400R

c.1199A>G