Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.V172G

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
1 paper
NM_001195794.1
p.V172G
c.515T>G
Surrounding Variants
1 paper
NM_174878.3
p.L154_A156insFs
c.460_467dup8
1 paper
NM_174878.3
p.F155L
c.465T>G
1 paper
NM_174878.3
p.F155L
c.465T>A
1 paper
NM_001195794.1
p.F168Y
c.503T>A
1 paper
NM_174878.3
p.F155L
c.463T>C
4 papers
NM_174878.3
p.I153_L154del1
c.459_461delAAT
9 papers
NM_174878.3
p.L154W
c.461T>G
NM_001195794.1
p.L167W
c.500T>G
1 paper
NM_052995.2
p.I77insFs
c.230dupT
1 paper
NM_174878.3
p.S165L
c.494C>T
1 paper
NM_052995.2
p.M76insFs
c.227dupT
1 paper
NM_174878.3
p.M152V
c.454A>G
3 papers
NM_174878.3
p.I168fs
c.502_503fs
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