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.R525W

c.1573C>T

Surrounding Variants

1 paper

NM_001128228.3

p.P526T

c.1576C>A

1 paper

NM_001128228.3

p.R527W

c.1579C>T

1 paper

NM_001128228.3

p.R527Q

c.1580G>A

1 paper

NM_001128228.3

p.E533A

c.1598A>C

1 paper

NM_001128228.3

p.Q513P

c.1538A>C

1 paper

NM_001128228.3

p.T511fs

c.1531_1532fs

1 paper

NM_001128228.3

p.T511A

c.1531A>G

1 paper

NM_001128228.3

p.P505S

c.1513C>T

1 paper

NM_001128228.3

p.T548I

c.1643C>T

1 paper

NM_001128228.3

p.H550_E551insA

c.1648_1652ins3

1 paper

NM_001128228.3

p.H550R

c.1649A>G

1 paper

NM_001128228.3

p.H550_E551ins1

c.1650_1651insCCG