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.N879S

c.2636A>G

Surrounding Variants

1 paper

NM_020975.6

p.N879fs

c.2635_2636fs

2 papers

NM_020975.6

p.N879D

c.2635A>G

1 paper

NM_020975.6

p.N879fs

c.2635_2636fs

1 paper

NM_020975.6

p.I880V

c.2638A>G

2 papers

NM_020975.6

p.N879delFs

c.2636delA

1 paper

NM_020975.6

p.R878*

c.2632A>T

1 paper

NM_020975.6

p.L881del1

c.2641_2643delCTG

17 papers

NM_020975.6

p.L881V

c.2641C>G

1 paper

NM_020975.6

p.A877V

c.2630C>T

1 paper

NM_020975.6

p.A877T

c.2629G>A

1 paper

NM_020975.6

p.A877P

c.2629G>C

6 papers

NM_020975.6

p.A876V

c.2627C>T