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

4 papers

NM_001128228.3

p.R12delFs

c.35delC

Surrounding Variants

1 paper

NM_001128228.3

p.R12C

c.34C>T

1 paper

NM_001128228.3

p.P11S

c.31C>T

1 paper

NM_001128228.3

p.V15L

c.43G>T

1 paper

NM_001128228.3

p.V15L

c.43G>C

1 paper

NM_001128228.3

p.S9delFs

c.25delA

1 paper

NM_001128228.3

p.V15_W18insFs

c.44_54dup11

9 papers

NM_001128228.3

p.A14_W18delFs

c.42_52del11

1 paper

NM_001128228.3

p.L4M

c.10C>A

1 paper

NM_001128228.3

p.A3V

c.8C>T

1 paper

NM_001128228.3

p.G36fs

c.106_107fs

1 paper

NM_001128228.3

p.G36delFs

c.107delC

1 paper

NM_001128228.3

p.P39delFs

c.117delG