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

1–12 of 261 variants

9 papers

NM_020547.3

p.L444_E452del0

c.1330_1356del27

7 papers

NM_020547.3

p.I209N

c.626T>A

6 papers

NM_020547.3

p.R406Q

c.1217G>A

6 papers

NM_020547.3

p.D491H

c.1471G>C

6 papers

NM_020547.3

p.R504C

c.1510C>T

5 papers

NM_020547.3

p.G78Splc

c.233-1G>A

5 papers

NM_020547.3

p.R80*

c.238C>T

5 papers

NM_020547.3

p.H282Q

c.846T>A

5 papers

NM_020547.3

p.H282Q

c.846T>G

5 papers

NM_020547.3

p.R407*

c.1219C>T

5 papers

NM_020547.3

p.R463H

c.1388G>A

5 papers

NM_020547.3

p.R471H

c.1412G>A