Varaico: Literature-Extracted Genetic Variants

USH1C

506 papers

RefSeq Summary

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and ...

Pfam Domains

USH1C_Naa 3–76UCSCHarmonin, N-terminal domain

PDZaa 87–165UCSCPDZ domain

PDZaa 211–290UCSCPDZ domain

PDZaa 452–537UCSCPDZ domain

Gene Aliases

HGNC Name

USH1 protein network component harmonin

HGNC Previous Symbol

DFNB18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_153676.4

p.P396P

c.1188A>G

Surrounding Variants

1 paper

NM_153676.4

p.P396delins

c.1187_1188delinsTG

2 papers

NM_153676.4

p.P396L

c.1187C>T

1 paper

NM_153676.4

p.V394_V397delFs

c.1180_1189del10

1 paper

NM_153676.4

p.V394fs

c.1180_1181fs

1 paper

NM_153676.4

p.T391S

c.1172C>G

1 paper

NM_153676.4

p.T391N

c.1172C>A

1 paper

NM_153676.4

p.T391A

c.1171A>G

2 papers

NM_153676.4

p.I390S

c.1169T>G

1 paper

NM_153676.4

p.S404P

c.1210T>C

1 paper

NM_153676.4

p.T389I

c.1166C>T

1 paper

NM_153676.4

p.S404Splc

c.1210+1G>C

1 paper

NM_153676.4

p.V394_S404delFs

c.1180_1210del31