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.G103D

c.308G>A

Surrounding Variants

1 paper

NM_020547.3

p.H99R

c.296A>G

2 papers

NM_020547.3

p.T108P

c.322A>C

4 papers

NM_020547.3

p.R97*

c.289C>T

1 paper

NM_020547.3

p.P96S

c.286C>T

1 paper

NM_020547.3

p.G112D

c.335G>A

1 paper

NM_020547.3

p.G112G

c.336C>T

1 paper

NM_020547.3

p.T113P

c.337A>C

1 paper

NM_020547.3

p.T113I

c.338C>T

2 papers

NM_020547.3

p.C92*

c.276T>A

1 paper

NM_020547.3

p.C116Fs

c.346delinsATFs

1 paper

NM_020547.3

p.A118T

c.352G>A

1 paper

NM_020547.3

p.N119D

c.355A>G