Varaico: Literature-Extracted Genetic Variants

PTPN18

49 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

Y_phosphataseaa 56–290UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 18

HGNC Previous Name

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014369.4

p.V65M

c.193G>A

Surrounding Variants

1 paper

NM_014369.4

p.V65A

c.194T>C

1 paper

NM_014369.4

p.D64A

c.191A>C

1 paper

NM_014369.4

p.K63R

c.188A>G

2 papers

NM_014369.4

p.Y62C

c.185A>G

1 paper

NM_014369.4

p.N56_V57del1

c.167_169delACG

1 paper

NM_014369.4

p.N56_V57del2

c.166_170del6

1 paper

NM_014369.4

p.V49M

c.145G>A

1 paper

NM_014369.4

p.S47C

c.140C>G

1 paper

NM_014369.4

p.S37L

c.110C>T

3 papers

NM_014369.4

p.N88_G89del1

c.264_266delTGG

1 paper

NM_014369.4

p.R93W

c.277C>T

1 paper

NM_014369.4

p.R93R

c.279G>A