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.R1398H

c.4193G>A

Surrounding Variants

3 papers

NM_015466.4

p.G1397C

c.4189G>T

1 paper

NM_015466.4

p.G1400_A1401insGC

c.4198_4202ins6

1 paper

NM_015466.4

p.S1394A

c.4180T>G

1 paper

NM_015466.4

p.P1419fs

c.4255_4256fs

1 paper

NM_015466.4

p.R1429W

c.4285C>T

2 papers

NM_015466.4

p.C1392S

c.4175G>C

2 papers

NM_015466.4

p.C1392S

c.4174T>A

1 paper

NM_015466.4

p.H1385Q

c.4155C>A

1 paper

NM_015466.4

p.H1385Q

c.4155C>G

1 paper

NM_015466.4

p.K1439T

c.4316A>C

1 paper

NM_015466.4

p.K1439_L1440Splc

c.4317+1G>T

1 paper

NM_015466.4

p.H1377R

c.4130A>G