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

2 papers

NM_020547.3

p.R270H

c.809G>A

Surrounding Variants

2 papers

NM_020547.3

p.L271_S273delFs

c.813_817del5

2 papers

NM_020547.3

p.L272fs

c.814_815fs

1 paper

NM_020547.3

p.P268fs

c.802_803fs

1 paper

NM_020547.3

p.S273T

c.817T>A

2 papers

NM_020547.3

p.G267fs

c.799_800fs

1 paper

NM_020547.3

p.G266R

c.796G>A

1 paper

NM_020547.3

p.G266R

c.796G>C

2 papers

NM_020547.3

p.G267insFs

c.800dupG

1 paper

NM_020547.3

p.R265W

c.793C>T

2 papers

NM_020547.3

p.R265delFs

c.794delG

1 paper

NM_020547.3

p.T262delFs

c.785delC

2 papers

NM_020547.3

p.R259*

c.775C>T