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

3 papers

NM_020975.6

p.M759I

c.2277G>T

Surrounding Variants

3 papers

NM_020975.6

p.M759I

c.2277G>A

3 papers

NM_020975.6

p.M759I

c.2277G>C

1 paper

NM_020975.6

p.L760Q

c.2279T>A

8 papers

NM_020975.6

p.K758R

c.2273A>G

43 papers

NM_020975.6

p.K758M

c.2273A>T

17 papers

NM_020975.6

p.E762Q

c.2284G>C

1 paper

NM_020975.6

p.E762G

c.2285A>G

5 papers

NM_020975.6

p.V757M

c.2269G>A

2 papers

NM_020975.6

p.E762D

c.2286G>C

2 papers

NM_020975.6

p.E762D

c.2286G>T

2 papers

NM_020975.6

p.A756D

c.2267C>A

1 paper

NM_020975.6

p.A756G

c.2267C>G