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.R757Q

c.2270G>A

Surrounding Variants

1 paper

NM_015466.4

p.P750A

c.2248C>G

1 paper

NM_015466.4

p.P750delFs

c.2249delC

1 paper

NM_015466.4

p.D740_P742del3

c.2218_2225del9

2 papers

NM_015466.4

p.L787I

c.2359C>A

1 paper

NM_015466.4

p.T721R

c.2162C>G

1 paper

NM_015466.4

p.K715N

c.2145G>C

1 paper

NM_015466.4

p.K715N

c.2145G>T

1 paper

NM_015466.4

p.K715del1

c.2143_2144delAAG

1 paper

NM_015466.4

p.R710Splc

c.2130-7C>T

1 paper

NM_015466.4

p.G818R

c.2452G>A

4 papers

NM_015466.4

p.P829L

c.2486C>T

2 papers

NM_015466.4

p.E830D

c.2490G>C