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

1–12 of 55 variants

4 papers

NM_014369.4

p.V264_K266del0

c.792_797del6

3 papers

NM_014369.4

p.N88_G89del1

c.264_266delTGG

3 papers

NM_014369.4

p.D197A

c.590A>C

3 papers

NM_014369.4

p.V264_K266del3

c.790_797del9

3 papers

NM_014369.4

p.Q371_G373del0

c.1113_1118del6

2 papers

NM_014369.4

p.G23A

c.68G>C

2 papers

NM_014369.4

p.Y62C

c.185A>G

2 papers

NM_014369.4

p.V95M

c.283G>A

2 papers

NM_014369.4

p.P109A

c.325C>G

2 papers

NM_014369.4

p.R138L

c.413G>T

2 papers

NM_014369.4

p.P415R

c.1244C>G

1 paper

NM_014369.4

p.G19delFs

c.56_57delGC