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.T5_R12delFs

c.15_36del22

Surrounding Variants

1 paper

NM_020975.6

p.T5R

c.14C>G

1 paper

NM_020975.6

p.T5_S6delFs

c.15_16delGT

1 paper

NM_020975.6

p.T5insFs

c.13_14insGG

1 paper

NM_020975.6

p.T5_S6del1

c.14_16delCGT

1 paper

NM_020975.6

p.S6delFs

c.16delT

30 papers

NM_020975.6

p.A4A

c.12G>A

37 papers

NM_020975.6

p.A4A

c.12G>C

1 paper

NM_020975.6

p.T5_L11insFs

c.13_31dup19

1 paper

NM_020975.6

p.G7_A8del2

c.19_23del6

1 paper

NM_020975.6

p.S6_R12delFs

c.17_35del19

1 paper

NM_020975.6

p.A4V

c.11C>T

1 paper

NM_020975.6

p.S6_L16delFs

c.18_48del31