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.G798Splc

c.2392+1G>A

Surrounding Variants

1 paper

NM_020975.6

p.G798Splc

c.2392+1G>C

1 paper

NM_020975.6

p.G798S

c.2392G>A

1 paper

NM_020975.6

p.D797V

c.2390A>T

2 papers

NM_020975.6

p.G798Splc

c.2392+5G>A

1 paper

NM_020975.6

p.D797Y

c.2389G>T

1 paper

NM_020975.6

p.Q796H

c.2388G>C

1 paper

NM_020975.6

p.Q796H

c.2388G>T

1 paper

NM_020975.6

p.G798Splc

c.2392+7C>T

2 papers

NM_020975.6

p.Q796*

c.2386C>T

1 paper

NM_020975.6

p.G798Splc

c.2392+8C>T

3 papers

NM_020975.6

p.S795R

c.2385C>A

3 papers

NM_020975.6

p.S795R

c.2385C>G