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.E232_E235delFs

c.696_705del10

Surrounding Variants

1 paper

NM_020975.6

p.E232K

c.694G>A

1 paper

NM_020975.6

p.E232Q

c.694G>C

1 paper

NM_020975.6

p.E232_L239del0

c.695_715del21

3 papers

NM_020975.6

p.R231_E232insFs

c.693_694insG

2 papers

NM_020975.6

p.Q233*

c.697C>T

24 papers

NM_020975.6

p.R231H

c.692G>A

1 paper

NM_020975.6

p.R231insFs

c.693dupC

1 paper

NM_020975.6

p.E232_Y237ins2

c.694_711dup18

3 papers

NM_020975.6

p.R231insFs

c.692_693insT

4 papers

NM_020975.6

p.R231C

c.691C>T

3 papers

NM_020975.6

p.R234W

c.700C>T

1 paper

NM_020975.6

p.D230G

c.689A>G