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.R135delFs

c.405delG

Surrounding Variants

1 paper

NM_001128228.3

p.R132H

c.395G>A

1 paper

NM_001128228.3

p.R147_R148insFs

c.440_444dup5

1 paper

NM_001128228.3

p.A121T

c.361G>A

1 paper

NM_001128228.3

p.R119L

c.356G>T

1 paper

NM_001128228.3

p.P158fs

c.472_473fs

1 paper

NM_001128228.3

p.P158delFs

c.473delG

1 paper

NM_001128228.3

p.F106F

c.318C>T

1 paper

NM_001128228.3

p.R168W

c.502C>T

1 paper

NM_001128228.3

p.A94S

c.280G>T

1 paper

NM_001128228.3

p.G184insFs

c.550_551insA

3 papers

NM_001128228.3

p.A187S

c.559G>T

1 paper

NM_001128228.3

p.A187T

c.559G>A