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

692 papers

NM_020975.6

p.V804M

c.2410G>A

Surrounding Variants

399 papers

NM_020975.6

p.V804L

c.2410G>C

400 papers

NM_020975.6

p.V804L

c.2410G>T

2 papers

NM_020975.6

p.I803I

c.2409C>T

13 papers

NM_020975.6

p.V804E

c.2411T>A

2 papers

NM_020975.6

p.V804A

c.2411T>C

4 papers

NM_020975.6

p.V804G

c.2411T>G

1 paper

NM_020975.6

p.I803T

c.2408T>C

2 papers

NM_020975.6

p.I803fs

c.2407_2408fs

42 papers

NM_020975.6

p.E805K

c.2413G>A

1 paper

NM_020975.6

p.E805*

c.2413G>T

2 papers

NM_020975.6

p.L802_I803insFs

c.2406_2407insT

1 paper

NM_020975.6

p.I803_L812del10

c.2407_2435del30