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

199 papers

NM_020975.6

p.E768D

c.2304G>C

Surrounding Variants

197 papers

NM_020975.6

p.E768D

c.2304G>T

2 papers

NM_020975.6

p.E768G

c.2303A>G

1 paper

NM_020975.6

p.E768V

c.2303A>T

1 paper

NM_020975.6

p.L769_R770ins3

c.2307_2308ins9

1 paper

NM_020975.6

p.L769_R770ins3

c.2307_2308ins9

2 papers

NM_020975.6

p.E768Q

c.2302G>C

2 papers

NM_020975.6

p.E768*

c.2302G>T

1 paper

NM_020975.6

p.L769_R770ins3

c.2307_2308ins9

50 papers

NM_020975.6

p.L769L

c.2307G>T

3 papers

NM_020975.6

p.L769_R770delins

c.2307_2308delinsTT

18 papers

NM_020975.6

p.S767R

c.2301T>A

18 papers

NM_020975.6

p.S767R

c.2301T>G