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

4 papers

NM_015466.4

p.R431W

c.1291C>T

Surrounding Variants

1 paper

NM_015466.4

p.R431Q

c.1292G>A

1 paper

NM_015466.4

p.C425C

c.1275C>T

1 paper

NM_015466.4

p.C425S

c.1274G>C

1 paper

NM_015466.4

p.C425S

c.1273T>A

1 paper

NM_015466.4

p.M422L

c.1264A>C

1 paper

NM_015466.4

p.M422L

c.1264A>T

1 paper

NM_015466.4

p.S441F

c.1322C>T

1 paper

NM_015466.4

p.V408M

c.1222G>A

1 paper

NM_015466.4

p.T407T

c.1221G>A

1 paper

NM_015466.4

p.V444Splc

c.1331-3C>T

1 paper

NM_015466.4

p.D451N

c.1351G>A

1 paper

NM_015466.4

p.E467insFs

c.1400_1401insGC