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.S832N

c.2495G>A

Surrounding Variants

1 paper

NM_020975.6

p.S832R

c.2494A>C

1 paper

NM_020975.6

p.S832R

c.2496C>A

1 paper

NM_020975.6

p.S832R

c.2496C>G

18 papers

NM_020975.6

p.R833C

c.2497C>T

5 papers

NM_020975.6

p.R833H

c.2498G>A

2 papers

NM_020975.6

p.G831V

c.2492G>T

1 paper

NM_020975.6

p.N834T

c.2501A>C

2 papers

NM_020975.6

p.G830A

c.2489G>C

1 paper

NM_020975.6

p.N834N

c.2502C>T

12 papers

NM_020975.6

p.G830R

c.2488G>A

11 papers

NM_020975.6

p.G830R

c.2488G>C

1 paper

NM_020975.6

p.S835_S836insA

c.2503_2507ins3