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

9 papers

NM_020975.6

p.A883delins

c.2647_2648delinsTT

Surrounding Variants

47 papers

NM_020975.6

p.A883T

c.2647G>A

4 papers

NM_020975.6

p.A883P

c.2647G>C

11 papers

NM_020975.6

p.A883delins

c.2647_2648delinsTC

1 paper

NM_020975.6

p.A883Fs

c.2647_2648delinsTFs

8 papers

NM_020975.6

p.A883V

c.2648C>T

1 paper

NM_020975.6

p.A883Fs

c.2648delinsTTFs

10 papers

NM_020975.6

p.E884K

c.2650G>A

9 papers

NM_020975.6

p.E884V

c.2651A>T

2 papers

NM_020975.6

p.E884D

c.2652G>C

2 papers

NM_020975.6

p.E884D

c.2652G>T

17 papers

NM_020975.6

p.L881V

c.2641C>G

3 papers

NM_020975.6

p.G885R

c.2653G>A