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.A1292del1

c.3874_3875delGCT

Surrounding Variants

6 papers

NM_015466.4

p.E1295_K1296del1

c.3884_3886delAGA

1 paper

NM_015466.4

p.D1272N

c.3814G>A

1 paper

NM_015466.4

p.A1271S

c.3811G>T

1 paper

NM_015466.4

p.P1267L

c.3800C>T

2 papers

NM_015466.4

p.P1258fs

c.3772_3773fs

2 papers

NM_015466.4

p.C1256delFs

c.3768delC

1 paper

NM_015466.4

p.R1301C

c.3901C>T

3 papers

NM_015466.4

p.E1250K

c.3748G>A

1 paper

NM_015466.4

p.R1301H

c.3902G>A

1 paper

NM_015466.4

p.R1301P

c.3902G>C

1 paper

NM_015466.4

p.F1303L

c.3907T>C

1 paper

NM_015466.4

p.F1303L

c.3909C>A