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.T323I

c.968C>T

Surrounding Variants

1 paper

NM_020975.6

p.T323T

c.969C>A

2 papers

NM_020975.6

p.W324*

c.971G>A

1 paper

NM_020975.6

p.W324insFs

c.971_972insAT

1 paper

NM_020975.6

p.W324L

c.971G>T

1 paper

NM_020975.6

p.D322N

c.964G>A

6 papers

NM_020975.6

p.W324C

c.972G>C

6 papers

NM_020975.6

p.W324C

c.972G>T

1 paper

NM_020975.6

p.D322fs

c.964_965fs

2 papers

NM_020975.6

p.A325T

c.973G>A

1 paper

NM_020975.6

p.A325P

c.973G>C

1 paper

NM_020975.6

p.A325S

c.973G>T

1 paper

NM_020975.6

p.A325D

c.974C>A