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.L91Q

c.272T>A

Surrounding Variants

1 paper

NM_001953.5

p.L91V

c.271C>G

5 papers

NM_001953.5

p.T92N

c.275C>A

2 papers

NM_001953.5

p.V90M

c.268G>A

2 papers

NM_001953.5

p.T88delFs

c.263_264delGG

2 papers

NM_001953.5

p.L80_T88delFs

c.239_263del25

1 paper

NM_001953.5

p.T88I

c.263C>T

1 paper

NM_001953.5

p.E87del1

c.259_261delCTC

11 papers

NM_001953.5

p.E87D

c.261G>T

8 papers

NM_001953.5

p.E87D

c.261G>C

1 paper

NM_001953.5

p.A96T

c.286G>A

1 paper

NM_001953.5

p.Q97*

c.289C>T

1 paper

NM_001953.5

p.Q97Q

c.291G>A