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.E1536K

c.4606G>A

Surrounding Variants

1 paper

NM_015466.4

p.S1533delins

c.4597_4598delinsTT

1 paper

NM_015466.4

p.P1530L

c.4589C>T

1 paper

NM_015466.4

p.P1545L

c.4634C>T

1 paper

NM_015466.4

p.P1545P

c.4635G>A

1 paper

NM_015466.4

p.P1545P

c.4635G>C

1 paper

NM_015466.4

p.L1548P

c.4643T>C

1 paper

NM_015466.4

p.S1550P

c.4648T>C

2 papers

NM_015466.4

p.P1551insFs

c.4651_4652dupCC

1 paper

NM_015466.4

p.L1552fs

c.4654_4655fs

2 papers

NM_015466.4

p.L1552fs

c.4654_4655fs

1 paper

NM_015466.4

p.L1552P

c.4655T>C

1 paper

NM_015466.4

p.K1504fs

c.4510_4511fs