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

80 papers

NM_020975.6

p.Y1062F

c.3185A>T

Surrounding Variants

12 papers

NM_020975.6

p.Y1062C

c.3185A>G

2 papers

NM_020975.6

p.G1063Splc

c.3187+1G>A

2 papers

NM_020975.6

p.G1063Splc

c.3187+1G>C

15 papers

NM_020975.6

p.L1061P

c.3182T>C

1 paper

NM_020975.6

p.L1061V

c.3181C>G

2 papers

NM_020975.6

p.K1060*

c.3178A>T

2 papers

NM_020975.6

p.N1059S

c.3176A>G

2 papers

NM_020975.6

p.N1059D

c.3175A>G

1 paper

NM_020975.6

p.G1063Splc

c.3187+8T>G

2 papers

NM_020975.6

p.E1058D

c.3174A>C

2 papers

NM_020975.6

p.E1058D

c.3174A>T

1 paper

NM_020975.6

p.E1058G

c.3173A>G