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.S922A

c.2764T>G

Surrounding Variants

5 papers

NM_020975.6

p.S922P

c.2764T>C

1 paper

NM_020975.6

p.E921D

c.2763A>C

1 paper

NM_020975.6

p.E921D

c.2763A>T

20 papers

NM_020975.6

p.S922Y

c.2765C>A

7 papers

NM_020975.6

p.S922F

c.2765C>T

1 paper

NM_020975.6

p.L923I

c.2767C>A

2 papers

NM_020975.6

p.L923V

c.2767C>G

3 papers

NM_020975.6

p.L923F

c.2767C>T

1 paper

NM_020975.6

p.F924delFs

c.2772delT

29 papers

NM_020975.6

p.E921K

c.2761G>A

9 papers

NM_020975.6

p.E921*

c.2761G>T

1 paper

NM_020975.6

p.L923H

c.2768T>A