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.R1070Q

c.3209G>A

Surrounding Variants

1 paper

NM_015466.4

p.R1070*

c.3208C>T

1 paper

NM_015466.4

p.G1071R

c.3211G>C

1 paper

NM_015466.4

p.G1061delFs

c.3183delC

1 paper

NM_015466.4

p.G1061fs

c.3181_3182fs

1 paper

NM_015466.4

p.L1049P

c.3146T>C

1 paper

NM_015466.4

p.H1046P

c.3137A>C

1 paper

NM_015466.4

p.G1095A

c.3284G>C

1 paper

NM_015466.4

p.P1096S

c.3286C>T

1 paper

NM_015466.4

p.P1099T

c.3295C>A

2 papers

NM_015466.4

p.P1099S

c.3295C>T

1 paper

NM_015466.4

p.P1041A

c.3121C>G

4 papers

NM_015466.4

p.R1100C

c.3298C>T