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.P992S

c.2974C>T

Surrounding Variants

1 paper

NM_020975.6

p.P992T

c.2974C>A

7 papers

NM_020975.6

p.P992L

c.2975C>T

4 papers

NM_020975.6

p.P992P

c.2976G>A

1 paper

NM_020975.6

p.E991Q

c.2971G>C

1 paper

NM_020975.6

p.Q990L

c.2969A>T

1 paper

NM_020975.6

p.K994E

c.2980A>G

1 paper

NM_020975.6

p.Q990_E991del1

c.2970_2972delGGA

3 papers

NM_020975.6

p.K994N

c.2982A>C

3 papers

NM_020975.6

p.K994N

c.2982A>T

1 paper

NM_020975.6

p.K989_E991del3

c.2965_2972del9

1 paper

NM_020975.6

p.P996Q

c.2987C>A

1 paper

NM_020975.6

p.P996P

c.2988G>A