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

2 papers

NM_020975.6

p.V706A

c.2117T>C

Surrounding Variants

14 papers

NM_020975.6

p.V706M

c.2116G>A

1 paper

NM_020975.6

p.S705S

c.2115C>T

7 papers

NM_020975.6

p.D707N

c.2119G>A

2 papers

NM_020975.6

p.S705F

c.2114C>T

6 papers

NM_020975.6

p.D707E

c.2121T>A

6 papers

NM_020975.6

p.D707E

c.2121T>G

1 paper

NM_020975.6

p.V704V

c.2112C>A

1 paper

NM_020975.6

p.A708T

c.2122G>A

1 paper

NM_020975.6

p.V704D

c.2111T>A

1 paper

NM_020975.6

p.V704A

c.2111T>C

1 paper

NM_020975.6

p.V704G

c.2111T>G

1 paper

NM_020975.6

p.F709delFs

c.2126delT