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

6 papers

NM_020547.3

p.D491H

c.1471G>C

Surrounding Variants

1 paper

NM_020547.3

p.A490V

c.1469C>T

1 paper

NM_020547.3

p.A494_Q502del9

c.1480_1505del27

1 paper

NM_020547.3

p.A494G

c.1481C>G

1 paper

NM_020547.3

p.R495W

c.1483C>T

2 papers

NM_020547.3

p.C487insFs

c.1460dupG

1 paper

NM_020547.3

p.C487fs

c.1459_1460fs

1 paper

NM_020547.3

p.R495Q

c.1484G>A

1 paper

NM_020547.3

p.L496L

c.1486C>T

1 paper

NM_020547.3

p.E485Q

c.1453G>C

1 paper

NM_020547.3

p.T497insFs

c.1491dupA

1 paper

NM_020547.3

p.L483F

c.1447C>T

5 papers

NM_020547.3

p.C500Y

c.1499G>A