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

5 papers

NM_020975.6

p.N783T

c.2348A>C

Surrounding Variants

8 papers

NM_020975.6

p.N783S

c.2348A>G

1 paper

NM_020975.6

p.N783D

c.2347A>G

1 paper

NM_020975.6

p.H784R

c.2351A>G

1 paper

NM_020975.6

p.V782ins1

c.2345_2346insCAA

1 paper

NM_020975.6

p.P785A

c.2353C>G

1 paper

NM_020975.6

p.P785S

c.2353C>T

2 papers

NM_020975.6

p.Q781H

c.2343G>C

2 papers

NM_020975.6

p.Q781H

c.2343G>T

1 paper

NM_020975.6

p.Q781P

c.2342A>C

35 papers

NM_020975.6

p.Q781R

c.2342A>G

1 paper

NM_020975.6

p.P785L

c.2354C>T

1 paper

NM_020975.6

p.Q781K

c.2341C>A