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.V444Splc

c.1331-3C>T

Surrounding Variants

1 paper

NM_015466.4

p.D451N

c.1351G>A

1 paper

NM_015466.4

p.E467insFs

c.1400_1401insGC

1 paper

NM_015466.4

p.E470Q

c.1408G>C

1 paper

NM_015466.4

p.S487F

c.1460C>T

1 paper

NM_015466.4

p.K488*

c.1462A>T

1 paper

NM_015466.4

p.R527C

c.1579C>T

1 paper

NM_015466.4

p.R527H

c.1580G>A

5 papers

NM_015466.4

p.P532L

c.1595C>T

1 paper

NM_015466.4

p.Q535E

c.1603C>G

1 paper

NM_015466.4

p.S441F

c.1322C>T

1 paper

NM_015466.4

p.R431Q

c.1292G>A

4 papers

NM_015466.4

p.R431W

c.1291C>T