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

6 papers

NM_020975.6

p.G548S

c.1642G>A

Surrounding Variants

4 papers

NM_020975.6

p.G548V

c.1643G>T

1 paper

NM_020975.6

p.D547D

c.1641T>C

1 paper

NM_020975.6

p.D547A

c.1640A>C

1 paper

NM_020975.6

p.D547G

c.1640A>G

2 papers

NM_020975.6

p.D547N

c.1639G>A

1 paper

NM_020975.6

p.D547Y

c.1639G>T

1 paper

NM_020975.6

p.G546A

c.1637G>C

3 papers

NM_020975.6

p.G550R

c.1648G>A

1 paper

NM_020975.6

p.G550R

c.1648G>C

1 paper

NM_020975.6

p.G550W

c.1648G>T

4 papers

NM_020975.6

p.G550E

c.1649G>A

1 paper

NM_020975.6

p.Q545P

c.1634A>C