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.E199fs

c.595_596fs

Surrounding Variants

2 papers

NM_020547.3

p.E199delFs

c.596delA

1 paper

NM_020547.3

p.E199V

c.596A>T

1 paper

NM_020547.3

p.R191T

c.572G>C

2 papers

NM_020547.3

p.V182V

c.546G>A

3 papers

NM_020547.3

p.R178*

c.532C>T

1 paper

NM_020547.3

p.R176G

c.526A>G

1 paper

NM_020547.3

p.K173E

c.517A>G

1 paper

NM_020547.3

p.R172Q

c.515G>A

3 papers

NM_020547.3

p.R172*

c.514C>T

1 paper

NM_020547.3

p.Q171E

c.511C>G

1 paper

NM_020547.3

p.L170_Q171ins9

c.508_512ins27

1 paper

NM_020547.3

p.L170V

c.508C>G