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.D58H

c.172G>C

Surrounding Variants

3 papers

NM_020975.6

p.D58N

c.172G>A

3 papers

NM_020975.6

p.D58Y

c.172G>T

1 paper

NM_020975.6

p.R57R

c.171G>A

5 papers

NM_020975.6

p.R57Q

c.170G>A

1 paper

NM_020975.6

p.R57L

c.170G>T

7 papers

NM_020975.6

p.R57W

c.169C>T

2 papers

NM_020975.6

p.A59T

c.175G>A

1 paper

NM_020975.6

p.A59fs

c.175_176fs

1 paper

NM_020975.6

p.A59S

c.175G>T

2 papers

NM_020975.6

p.A59delFs

c.176delC

1 paper

NM_020975.6

p.A59_P64delFs

c.176_191del16

3 papers

NM_020975.6

p.A59G

c.176C>G