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

2 papers

NM_015466.4

p.H1351R

c.4052A>G

Surrounding Variants

1 paper

NM_015466.4

p.R1332H

c.3995G>A

9 papers

NM_015466.4

p.R1332L

c.3995G>T

1 paper

NM_015466.4

p.V1330M

c.3988G>A

1 paper

NM_015466.4

p.R1324C

c.3970C>T

1 paper

NM_015466.4

p.A1319V

c.3956C>T

1 paper

NM_015466.4

p.F1303L

c.3909C>A

1 paper

NM_015466.4

p.F1303L

c.3909C>G

1 paper

NM_015466.4

p.F1303L

c.3907T>C

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.R1301C

c.3901C>T

1 paper

NM_015466.4

p.H1377R

c.4130A>G