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.L22delFs

c.65_66delTA

Surrounding Variants

1 paper

NM_020975.6

p.L21L

c.63G>T

1 paper

NM_020975.6

p.L22R

c.65T>G

1 paper

NM_020975.6

p.L22insFs

c.66dupA

1 paper

NM_020975.6

p.L22_G23delFs

c.66_67delAG

1 paper

NM_020975.6

p.L22L

c.66A>G

1 paper

NM_020975.6

p.G23del1

c.67_68delGGC

1 paper

NM_020975.6

p.L22_V25delFs

c.64_73del10

1 paper

NM_020975.6

p.L21fs

c.61_62fs

1 paper

NM_020975.6

p.L21V

c.61C>G

1 paper

NM_020975.6

p.L21delFs

c.62delT

1 paper

NM_020975.6

p.P20P

c.60G>T

1 paper

NM_020975.6

p.G23delFs

c.69delC