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

27 papers

NM_001953.5

p.S471L

c.1412C>T

Surrounding Variants

5 papers

NM_001953.5

p.S471*

c.1412C>A

3 papers

NM_001953.5

p.A469insFs

c.1406_1407insC

1 paper

NM_001953.5

p.S471fs

c.1411_1412fs

4 papers

NM_001953.5

p.P472delFs

c.1416delG

1 paper

NM_001953.5

p.A465_F467delFs

c.1394_1400del7

2 papers

NM_001953.5

p.F467F

c.1401C>T

1 paper

NM_001953.5

p.F467L

c.1401C>G

1 paper

NM_001953.5

p.F467L

c.1401C>A

1 paper

NM_001953.5

p.F467L

c.1399T>C

1 paper

NM_001953.5

p.L476V

c.1426C>G

10 papers

NM_001953.5

p.A465T

c.1393G>A

5 papers

NM_001953.5

p.V477_L478insFs

c.1431_1432insT