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.G885E

c.2654G>A

Surrounding Variants

3 papers

NM_020975.6

p.G885R

c.2653G>A

3 papers

NM_020975.6

p.G885R

c.2653G>C

2 papers

NM_020975.6

p.G885W

c.2653G>T

1 paper

NM_020975.6

p.R886G

c.2656C>G

27 papers

NM_020975.6

p.R886W

c.2656C>T

2 papers

NM_020975.6

p.E884D

c.2652G>C

2 papers

NM_020975.6

p.E884D

c.2652G>T

9 papers

NM_020975.6

p.E884V

c.2651A>T

17 papers

NM_020975.6

p.R886Q

c.2657G>A

1 paper

NM_020975.6

p.R886P

c.2657G>C

2 papers

NM_020975.6

p.R886L

c.2657G>T

10 papers

NM_020975.6

p.E884K

c.2650G>A