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.F517L

c.1551T>A

Surrounding Variants

1 paper

NM_020547.3

p.F517L

c.1551T>G

1 paper

NM_020547.3

p.S520delFs

c.1558_1559delAG

1 paper

NM_020547.3

p.F517L

c.1549T>C

1 paper

NM_020547.3

p.H510R

c.1529A>G

3 papers

NM_020547.3

p.C525Y

c.1574G>A

1 paper

NM_020547.3

p.P527_L528del2

c.1579_1583del6

2 papers

NM_020547.3

p.R504H

c.1511G>A

6 papers

NM_020547.3

p.R504C

c.1510C>T

1 paper

NM_020547.3

p.Q502*

c.1504C>T

5 papers

NM_020547.3

p.C500Y

c.1499G>A

1 paper

NM_020547.3

p.T497insFs

c.1491dupA

1 paper

NM_020547.3

p.L496L

c.1486C>T