Varaico: Literature-Extracted Genetic Variants

TYMP

378 papers

RefSeq Summary

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acti...

Pfam Domains

Glycos_trans_3Naa 37–99UCSCGlycosyl transferase family, helical bundle domain

Glycos_transf_3aa 109–340UCSCGlycosyl transferase family, a/b domain

PYNP_Caa 388–462UCSCPyrimidine nucleoside phosphorylase C-terminal domain

Gene Aliases

HGNC Name

thymidine phosphorylase

HGNC Previous Symbols

MNGIE; ECGF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001953.5

p.L26P

c.77T>C

Surrounding Variants

1 paper

NM_001953.5

p.E21K

c.61G>A

1 paper

NM_001953.5

p.K34fs

c.100_101fs

2 papers

NM_001953.5

p.K34insFs

c.100_101insC

2 papers

NM_001953.5

p.D17_F18delFs

c.51_52delAG

1 paper

NM_001953.5

p.F18fs

c.52_53fs

5 papers

NM_001953.5

p.E38*

c.112G>T

1 paper

NM_001953.5

p.L39L

c.117G>C

1 paper

NM_001953.5

p.A11delFs

c.33delG

1 paper

NM_001953.5

p.I40S

c.119T>G

2 papers

NM_001953.5

p.P12L

c.35C>T

1 paper

NM_001953.5

p.I40M

c.120C>G

1 paper

NM_001953.5

p.I40I

c.120C>A