Varaico: Literature-Extracted Genetic Variants

PTPN23

153 papers

RefSeq Summary

This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA...

Pfam Domains

BRO1aa 9–380UCSCBRO1-like domain

ALIX_LYPXL_bndaa 416–702UCSCALIX V-shaped domain binding to HIV

Y_phosphataseaa 1217–1451UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 23

HGNC Alias Symbols

DKFZP564F0923; KIAA1471; HD-PTP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015466.4

p.D317Y

c.949G>T

Surrounding Variants

3 papers

NM_015466.4

p.D315V

c.944A>T

1 paper

NM_015466.4

p.K314_D315del1

c.941_943delAGG

1 paper

NM_015466.4

p.K314_D315del2

c.940_944del6

1 paper

NM_015466.4

p.K314del1

c.940_942delAAG

1 paper

NM_015466.4

p.N310Y

c.928A>T

1 paper

NM_015466.4

p.L330F

c.988C>T

1 paper

NM_015466.4

p.G335Splc

c.1004-15T>C

1 paper

NM_015466.4

p.A336V

c.1007C>T

5 papers

NM_015466.4

p.M302V

c.904A>G

1 paper

NM_015466.4

p.P341ins1

c.1022_1023insGCT

1 paper

NM_015466.4

p.R299H

c.896G>A

1 paper

NM_015466.4

p.A297A

c.891G>A