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.I858T

c.2573T>C

Surrounding Variants

4 papers

NM_020975.6

p.I858S

c.2573T>G

1 paper

NM_020975.6

p.I858V

c.2572A>G

1 paper

NM_020975.6

p.I858I

c.2574C>T

1 paper

NM_020975.6

p.S859_Q860ins5

c.2575_2579ins15

2 papers

NM_020975.6

p.S859delFs

c.2576delC

1 paper

NM_020975.6

p.S859*

c.2576C>A

1 paper

NM_020975.6

p.S859*

c.2576C>G

1 paper

NM_020975.6

p.Q860K

c.2578C>A

6 papers

NM_020975.6

p.Q860*

c.2578C>T

1 paper

NM_020975.6

p.W856*

c.2568G>A

2 papers

NM_020975.6

p.Q860R

c.2579A>G

1 paper

NM_020975.6

p.Q860L

c.2579A>T