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.R81Q

c.242G>A

Surrounding Variants

2 papers

NM_001953.5

p.R81W

c.241C>T

2 papers

NM_001953.5

p.L80fs

c.238_239fs

1 paper

NM_001953.5

p.R79Q

c.236G>A

1 paper

NM_001953.5

p.R79*

c.235C>T

1 paper

NM_001953.5

p.A77T

c.229G>A

2 papers

NM_001953.5

p.M76I

c.228G>T

2 papers

NM_001953.5

p.M76I

c.228G>C

3 papers

NM_001953.5

p.M76I

c.228G>A

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.L75M

c.223C>A

1 paper

NM_001953.5

p.E87del1

c.259_261delCTC