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.R820R

c.2460C>T

Surrounding Variants

3 papers

NM_020975.6

p.K821Q

c.2461A>C

2 papers

NM_020975.6

p.K821E

c.2461A>G

7 papers

NM_020975.6

p.R820H

c.2459G>A

3 papers

NM_020975.6

p.R820L

c.2459G>T

1 paper

NM_020975.6

p.K821R

c.2462A>G

2 papers

NM_020975.6

p.R820S

c.2458C>A

3 papers

NM_020975.6

p.R820C

c.2458C>T

1 paper

NM_020975.6

p.V822insFs

c.2464_2465insA

5 papers

NM_020975.6

p.S819I

c.2456G>T

1 paper

NM_020975.6

p.V822E

c.2465T>A

1 paper

NM_020975.6

p.E818D

c.2454G>C

1 paper

NM_020975.6

p.E818D

c.2454G>T