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.L779P

c.2336T>C

Surrounding Variants

1 paper

NM_020975.6

p.L779M

c.2335C>A

2 papers

NM_020975.6

p.K780insFs

c.2338_2339insC

1 paper

NM_020975.6

p.K780E

c.2338A>G

4 papers

NM_020975.6

p.K780*

c.2338A>T

1 paper

NM_020975.6

p.K780fs

c.2338_2339fs

2 papers

NM_020975.6

p.V778V

c.2334C>T

1 paper

NM_020975.6

p.K780ins3

c.2339_2340ins9

2 papers

NM_020975.6

p.V778D

c.2333T>A

50 papers

NM_020975.6

p.V778I

c.2332G>A

2 papers

NM_020975.6

p.V778L

c.2332G>C

2 papers

NM_020975.6

p.K780N

c.2340G>C

1 paper

NM_020975.6

p.V778fs

c.2332_2333fs