Varaico: Literature-Extracted Genetic Variants

AMHR2

170 papers

RefSeq Summary

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by differen...

Pfam Domains

Activin_recpaa 38–123UCSCActivin types I and II receptor domain

Pkinaseaa 205–505UCSCProtein kinase domain

Gene Aliases

HGNC Name

anti-Mullerian hormone receptor type 2

HGNC Alias Symbols

MISR2; MISRII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020547.3

p.C79R

c.235T>C

Surrounding Variants

3 papers

NM_020547.3

p.C79W

c.237C>G

5 papers

NM_020547.3

p.R80*

c.238C>T

5 papers

NM_020547.3

p.G78Splc

c.233-1G>A

2 papers

NM_020547.3

p.D81_S82delFs

c.243_244delCA

2 papers

NM_020547.3

p.D81fs

c.241_242fs

1 paper

NM_020547.3

p.D81E

c.243C>A

1 paper

NM_020547.3

p.D81E

c.243C>G

1 paper

NM_020547.3

p.D83V

c.248A>T

1 paper

NM_020547.3

p.E84E

c.252G>A

1 paper

NM_020547.3

p.P85A

c.253C>G

2 papers

NM_020547.3

p.C92*

c.276T>A

1 paper

NM_020547.3

p.P96S

c.286C>T