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.E1197Q

c.3589G>C

Surrounding Variants

1 paper

NM_015466.4

p.R1196fs

c.3586_3587fs

4 papers

NM_015466.4

p.R1196*

c.3586C>T

1 paper

NM_015466.4

p.R1209C

c.3625C>T

1 paper

NM_015466.4

p.E1177D

c.3531G>C

1 paper

NM_015466.4

p.E1177D

c.3531G>T

1 paper

NM_015466.4

p.R1222W

c.3664C>T

1 paper

NM_015466.4

p.R1170M

c.3509G>T

1 paper

NM_015466.4

p.D1163G

c.3488A>G

1 paper

NM_015466.4

p.R1162W

c.3484C>T

1 paper

NM_015466.4

p.R1233S

c.3697C>A

1 paper

NM_015466.4

p.R1237C

c.3709C>T

1 paper

NM_015466.4

p.R1153Q

c.3458G>A