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

2 papers

NM_020975.6

p.Y752D

c.2254T>G

Surrounding Variants

1 paper

NM_020975.6

p.Y752N

c.2254T>A

1 paper

NM_020975.6

p.Y752H

c.2254T>C

2 papers

NM_020975.6

p.Y752delins

c.2254_2255delinsGT

1 paper

NM_020975.6

p.Y752C

c.2255A>G

1 paper

NM_020975.6

p.Y752F

c.2255A>T

1 paper

NM_020975.6

p.G751G

c.2253G>C

1 paper

NM_020975.6

p.Y752Y

c.2256C>T

1 paper

NM_020975.6

p.G751V

c.2252G>T

2 papers

NM_020975.6

p.T753P

c.2257A>C

2 papers

NM_020975.6

p.T753A

c.2257A>G

1 paper

NM_020975.6

p.T754_A756del3

c.2260_2267del9

4 papers

NM_020975.6

p.G751R

c.2251G>A