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.E1447D

c.4341G>T

Surrounding Variants

1 paper

NM_015466.4

p.E1447D

c.4341G>C

1 paper

NM_015466.4

p.Y1446C

c.4337A>G

1 paper

NM_015466.4

p.H1460Y

c.4378C>T

1 paper

NM_015466.4

p.K1439_L1440Splc

c.4317+1G>T

1 paper

NM_015466.4

p.K1439T

c.4316A>C

1 paper

NM_015466.4

p.R1429W

c.4285C>T

1 paper

NM_015466.4

p.L1480F

c.4438C>T

1 paper

NM_015466.4

p.P1419fs

c.4255_4256fs

1 paper

NM_015466.4

p.G1400_A1401insGC

c.4198_4202ins6

1 paper

NM_015466.4

p.R1398H

c.4193G>A

3 papers

NM_015466.4

p.G1397C

c.4189G>T

1 paper

NM_015466.4

p.K1504fs

c.4510_4511fs