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.E62insFs

c.185_186insA

Surrounding Variants

3 papers

NM_020975.6

p.E62K

c.184G>A

3 papers

NM_020975.6

p.E61A

c.182A>C

8 papers

NM_020975.6

p.E61G

c.182A>G

7 papers

NM_020975.6

p.E61V

c.182A>T

1 paper

NM_020975.6

p.E62E

c.186G>A

3 papers

NM_020975.6

p.E61K

c.181G>A

3 papers

NM_020975.6

p.V63M

c.187G>A

3 papers

NM_020975.6

p.E61Q

c.181G>C

1 paper

NM_020975.6

p.V63L

c.187G>C

2 papers

NM_020975.6

p.V63insFs

c.187_188insAC

2 papers

NM_020975.6

p.V63fs

c.187_188fs

1 paper

NM_020975.6

p.V63A

c.188T>C