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

14 papers

NM_001953.5

p.G387Splc

c.1160-1G>A

Surrounding Variants

1 paper

NM_001953.5

p.G387Splc

c.1160-1G>C

6 papers

NM_001953.5

p.G387D

c.1160G>A

3 papers

NM_001953.5

p.G387Splc

c.1160-2A>G

2 papers

NM_001953.5

p.G387Splc

c.1160-2A>C

1 paper

NM_001953.5

p.G387Splc

c.1160-14C>G

1 paper

NM_001953.5

p.P396A

c.1186C>G

2 papers

NM_001953.5

p.V392_P396del0

c.1176_1187del12

1 paper

NM_001953.5

p.V392_P396del5

c.1174_1187del15

1 paper

NM_001953.5

p.L399P

c.1196T>C

1 paper

NM_001953.5

p.A398_V400del0

c.1193_1198del6

2 papers

NM_001953.5

p.R393_L401ins3

c.1178_1201dup24

NM_001257989.1

p.R398_L406ins3

c.1193_1216dup24

3 papers

NM_001953.5

p.V400_L401del0

c.1198_1203del6