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

38 papers

NM_020975.6

p.Y1015F

c.3044A>T

Surrounding Variants

1 paper

NM_020975.6

p.Y1015*

c.3045C>A

1 paper

NM_020975.6

p.Y1015*

c.3045C>G

1 paper

NM_020975.6

p.D1014G

c.3041A>G

1 paper

NM_020975.6

p.L1016S

c.3047T>C

1 paper

NM_020975.6

p.D1014N

c.3040G>A

1 paper

NM_020975.6

p.L1016F

c.3048G>C

1 paper

NM_020975.6

p.L1016F

c.3048G>T

6 papers

NM_020975.6

p.D1017N

c.3049G>A

1 paper

NM_020975.6

p.D1017H

c.3049G>C

1 paper

NM_020975.6

p.D1017G

c.3050A>G

1 paper

NM_020975.6

p.D1017_L1018insFs

c.3051_3052insA

1 paper

NM_020975.6

p.R1013_D1014Splc

c.3040-3C>T