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

7 papers

NM_020547.3

p.I209N

c.626T>A

Surrounding Variants

1 paper

NM_020547.3

p.I209I

c.627C>T

1 paper

NM_020547.3

p.R210W

c.628C>T

2 papers

NM_020547.3

p.Q207_V208Splc

c.622-6C>T

1 paper

NM_020547.3

p.W218R

c.652T>C

1 paper

NM_020547.3

p.Q221_K230del0

c.661_690del30

1 paper

NM_020547.3

p.Q207_V208Splc

c.622-51C>T

1 paper

NM_020547.3

p.K230R

c.689A>G

2 papers

NM_020547.3

p.A231T

c.691G>A

1 paper

NM_020547.3

p.S236T

c.706T>A

2 papers

NM_020547.3

p.E243_R244del2

c.727_731del6

1 paper

NM_020547.3

p.A245T

c.733G>A

1 paper

NM_020547.3

p.L249I

c.745C>A