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.A845delFs

c.2534delC

Surrounding Variants

1 paper

NM_020975.6

p.A845fs

c.2533_2534fs

1 paper

NM_020975.6

p.A845V

c.2534C>T

1 paper

NM_020975.6

p.A845A

c.2535C>T

22 papers

NM_020975.6

p.R844Q

c.2531G>A

40 papers

NM_020975.6

p.R844L

c.2531G>T

2 papers

NM_020975.6

p.L846I

c.2536C>A

1 paper

NM_020975.6

p.R844R

c.2530C>A

15 papers

NM_020975.6

p.R844W

c.2530C>T

5 papers

NM_020975.6

p.E843D

c.2529G>C

5 papers

NM_020975.6

p.E843D

c.2529G>T

1 paper

NM_020975.6

p.E843V

c.2528A>T

1 paper

NM_020975.6

p.L846L

c.2538C>T