Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.F85Splc

CLRN1

261 papers

RefSeq Summary

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded p...

Pfam Domains

Clarin-2aa 5–206UCSCClarin-2-like

Gene Aliases

HGNC Name

clarin 1

HGNC Previous Symbols

USH3; USH3A; RP61

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_174878.3
p.F85Splc
c.253+6T>C
Surrounding Variants
1 paper
NM_174878.3
p.F85Splc
c.253+6T>A
1 paper
NM_174878.3
p.F85Splc
c.253+1G>T
1 paper
NM_174878.3
p.F85Splc
c.253+1G>A
1 paper
NM_174878.3
p.F81insFs
c.242_243ins4
4 papers
NM_174878.3
p.P80insFs
c.238dupC
1 paper
NM_174878.3
p.P80_F81insFs
c.240_241ins4
1 paper
NM_174878.3
p.R79W
c.235A>T
1 paper
NM_174878.3
p.A78fs
c.232_233fs
1 paper
NM_174878.3
p.G77insFs
c.230dupG
1 paper
NM_174878.3
p.G77E
c.230G>A
1 paper
NM_174878.3
p.L76insFs
c.227dupT
1 paper
NM_174878.3
p.G75delFs
c.223delC
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