Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020975.6

p.P213delFs

c.639delC

Surrounding Variants

2 papers

NM_020975.6

p.L212L

c.636G>A

1 paper

NM_020975.6

p.P213_F214insT

c.637_641ins3

2 papers

NM_020975.6

p.P213S

c.637C>T

18 papers

NM_020975.6

p.L212M

c.634C>A

108 papers

NM_020975.6

p.L212V

c.634C>G

9 papers

NM_020975.6

p.L212L

c.634C>T

2 papers

NM_020975.6

p.G211A

c.632G>C

1 paper

NM_020975.6

p.F214V

c.640T>G

1 paper

NM_020975.6

p.G211S

c.631G>A

3 papers

NM_020975.6

p.G211delFs

c.632_633delGT

1 paper

NM_020975.6

p.F214C

c.641T>G

1 paper

NM_020975.6

p.F214F

c.642C>T