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.P1563S

c.4687C>T

Surrounding Variants

2 papers

NM_206933.4

p.S1562*

c.4685C>G

2 papers

NM_206933.4

p.S1562*

c.4685C>A

1 paper

NM_206933.4

p.N1565D

c.4693A>G

3 papers

NM_206933.4

p.A1560E

c.4679C>A

1 paper

NM_206933.4

p.Q1566*

c.4696C>T

1 paper

NM_206933.4

p.Q1566R

c.4697A>G

1 paper

NM_206933.4

p.Q1566H

c.4698G>T

1 paper

NM_206933.4

p.Q1566H

c.4698G>C

1 paper

NM_206933.4

p.L1556_V1558delFs

c.4666_4673del8

1 paper

NM_206933.4

p.V1558F

c.4672G>T

1 paper

NM_206933.4

p.V1558I

c.4672G>A

1 paper

NM_206933.4

p.I1557S

c.4670T>G