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.K1545_L1556del0

c.4635_4667del33

Surrounding Variants

1 paper

NM_206933.4

p.I1557fs

c.4669_4670fs

1 paper

NM_206933.4

p.I1557S

c.4670T>G

1 paper

NM_206933.4

p.I1557T

c.4670T>C

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.L1556_V1558delFs

c.4666_4673del8

2 papers

NM_206933.4

p.G1555C

c.4663G>T

3 papers

NM_206933.4

p.A1560E

c.4679C>A

1 paper

NM_206933.4

p.P1553S

c.4657C>T

2 papers

NM_206933.4

p.V1552E

c.4655T>A

2 papers

NM_206933.4

p.S1562*

c.4685C>G

2 papers

NM_206933.4

p.S1562*

c.4685C>A