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.M307L

c.919A>T

Surrounding Variants

1 paper

NM_001128228.3

p.M307L

c.919A>C

1 paper

NM_001128228.3

p.G313R

c.937G>C

1 paper

NM_001128228.3

p.G313R

c.937G>A

1 paper

NM_001128228.3

p.E298D

c.894G>T

1 paper

NM_001128228.3

p.E298D

c.894G>C

1 paper

NM_001128228.3

p.A317S

c.949G>T

1 paper

NM_001128228.3

p.R318W

c.952C>T

1 paper

NM_001128228.3

p.T291I

c.872C>T

1 paper

NM_001128228.3

p.L323L

c.969C>T

1 paper

NM_001128228.3

p.V333L

c.997G>C

1 paper

NM_001128228.3

p.A339V

c.1016C>T

1 paper

NM_001128228.3

p.P265T

c.793C>A