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

6 papers

NM_020975.6

p.Y826S

c.2477A>C

Surrounding Variants

1 paper

NM_020975.6

p.Y826C

c.2477A>G

5 papers

NM_020975.6

p.Y826F

c.2477A>T

1 paper

NM_020975.6

p.Y826delFs

c.2476delT

1 paper

NM_020975.6

p.L827fs

c.2479_2480fs

2 papers

NM_020975.6

p.G825D

c.2474G>A

1 paper

NM_020975.6

p.G828R

c.2482G>C

1 paper

NM_020975.6

p.G828A

c.2483G>C

3 papers

NM_020975.6

p.S829G

c.2485A>G

1 paper

NM_020975.6

p.G823E

c.2468G>A

1 paper

NM_020975.6

p.S829T

c.2486G>C

2 papers

NM_020975.6

p.G823R

c.2467G>A

2 papers

NM_020975.6

p.G823R

c.2467G>C