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

4 papers

NM_020975.6

p.L29insFs

c.85_86insC

Surrounding Variants

1 paper

NM_020975.6

p.G28D

c.83G>A

2 papers

NM_020975.6

p.G28G

c.84C>A

1 paper

NM_020975.6

p.G28C

c.82G>T

1 paper

NM_020975.6

p.L27F

c.81G>C

1 paper

NM_020975.6

p.L27F

c.81G>T

1 paper

NM_020975.6

p.G28_L29delFs

c.82_85del4

6 papers

NM_020975.6

p.L29insFs

c.86_87insC

1 paper

NM_020975.6

p.G28_R33del6

c.82_98del18

1 paper

NM_020975.6

p.Y30delFs

c.88delT

1 paper

NM_020975.6

p.Y30_S32delFs

c.88_94del7

1 paper

NM_020975.6

p.L27V

c.79T>G

2 papers

NM_020975.6

p.A26_L27insFs

c.78_79insT