Varaico: Literature-Extracted Genetic Variants

PTPN21

110 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

FERM_Naa 27–90UCSCFERM N-terminal domain

FERM_Maa 106–222UCSCFERM central domain

FERM_Caa 226–312UCSCFERM C-terminal PH-like domain

Y_phosphataseaa 921–1166UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 21

HGNC Alias Symbols

PTPD1; PTPRL10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007039.4

p.I849delFs

c.2545delT

Surrounding Variants

1 paper

NM_007039.4

p.I849insFs

c.2545dupA

2 papers

NM_007039.4

p.I849fs

c.2545_2546fs

1 paper

NM_007039.4

p.I849fs

c.2545_2546fs

1 paper

NM_007039.4

p.V844A

c.2531T>C

1 paper

NM_007039.4

p.R864L

c.2591G>T

1 paper

NM_007039.4

p.T876N

c.2627C>A

1 paper

NM_007039.4

p.R890*

c.2668C>T

1 paper

NM_007039.4

p.Q893L

c.2678A>T

1 paper

NM_007039.4

p.D910N

c.2728G>A

1 paper

NM_007039.4

p.R926*

c.2776C>T

1 paper

NM_007039.4

p.L931F

c.2791C>T

1 paper

NM_007039.4

p.Y933H

c.2797T>C