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

4 papers

NM_015466.4

p.Q960_P963del0

c.2878_2889del12

Surrounding Variants

1 paper

NM_015466.4

p.P963del1

c.2887_2888delCCT

1 paper

NM_015466.4

p.H962Q

c.2886T>A

1 paper

NM_015466.4

p.H962Q

c.2886T>G

3 papers

NM_015466.4

p.A944T

c.2830G>A

1 paper

NM_015466.4

p.A944P

c.2830G>C

1 paper

NM_015466.4

p.G941_P943del3

c.2821_2828del9

1 paper

NM_015466.4

p.S940_I942del3

c.2818_2825del9

1 paper

NM_015466.4

p.A928T

c.2782G>A

3 papers

NM_015466.4

p.L992delFs

c.2974delC

1 paper

NM_015466.4

p.L992fs

c.2974_2975fs

3 papers

NM_015466.4

p.L992fs

c.2974_2975fs

3 papers

NM_015466.4

p.Q916R

c.2747A>G