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.A269_G275insFs

c.807_825dup19

Surrounding Variants

1 paper

NM_020975.6

p.S268*

c.803C>A

1 paper

NM_020975.6

p.S268L

c.803C>T

1 paper

NM_020975.6

p.A269_G275ins2

c.805_825dup21

1 paper

NM_020975.6

p.A269_P273del5

c.805_818del15

1 paper

NM_020975.6

p.S268_T271delFs

c.803_812del10

1 paper

NM_020975.6

p.A269P

c.805G>C

5 papers

NM_020975.6

p.D267N

c.799G>A

2 papers

NM_020975.6

p.D267insFs

c.800_801insA

1 paper

NM_020975.6

p.P270insFs

c.810dupC

1 paper

NM_020975.6

p.S268_T271delFs

c.802_812del11

2 papers

NM_020975.6

p.D266E

c.798C>A

2 papers

NM_020975.6

p.D266E

c.798C>G