Varaico: Literature-Extracted Genetic Variants

TPRN

111 papers

RefSeq Summary

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have...

Pfam Domains

Phostensin_Naa 8–87UCSCPP1-regulatory protein, Phostensin N-terminal

Phostensinaa 467–598UCSCPhostensin PP1-binding and SH3-binding region

Gene Aliases

HGNC Name

taperin

HGNC Previous Symbols

C9orf75; DFNB79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001128228.3

p.Q562*

c.1684C>T

Surrounding Variants

1 paper

NM_001128228.3

p.G557S

c.1669G>A

1 paper

NM_001128228.3

p.T567S

c.1699A>T

1 paper

NM_001128228.3

p.T567I

c.1700C>T

1 paper

NM_001128228.3

p.T567S

c.1700C>G

1 paper

NM_001128228.3

p.A569V

c.1706C>T

1 paper

NM_001128228.3

p.S571C

c.1712C>G

1 paper

NM_001128228.3

p.S572L

c.1715C>T

1 paper

NM_001128228.3

p.H550_E551ins1

c.1650_1651insCCG

2 papers

NM_001128228.3

p.H550Q

c.1650T>G

2 papers

NM_001128228.3

p.H550Q

c.1650T>A

1 paper

NM_001128228.3

p.H550R

c.1649A>G

1 paper

NM_001128228.3

p.H550_E551insA

c.1648_1652ins3