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.P64_R67del4

c.190_200del12

Surrounding Variants

1 paper

NM_020975.6

p.P64_Y73del10

c.190_218del30

1 paper

NM_020975.6

p.P64S

c.190C>T

1 paper

NM_020975.6

p.V63A

c.188T>C

13 papers

NM_020975.6

p.P64L

c.191C>T

1 paper

NM_020975.6

p.S65_F66del2

c.193_197del6

3 papers

NM_020975.6

p.V63M

c.187G>A

1 paper

NM_020975.6

p.V63L

c.187G>C

2 papers

NM_020975.6

p.V63insFs

c.187_188insAC

2 papers

NM_020975.6

p.V63fs

c.187_188fs

1 paper

NM_020975.6

p.P64P

c.192C>A

1 paper

NM_020975.6

p.P64P

c.192C>G

1 paper

NM_020975.6

p.E62E

c.186G>A