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.A245T

c.733G>A

Surrounding Variants

2 papers

NM_020547.3

p.E243_R244del2

c.727_731del6

1 paper

NM_020547.3

p.L249I

c.745C>A

4 papers

NM_020547.3

p.L249F

c.745C>T

1 paper

NM_020547.3

p.L252P

c.755T>C

1 paper

NM_020547.3

p.S236T

c.706T>A

1 paper

NM_020547.3

p.H254Q

c.762C>A

1 paper

NM_020547.3

p.H254Q

c.762C>G

3 papers

NM_020547.3

p.H256P

c.767A>C

1 paper

NM_020547.3

p.I257T

c.770T>C

1 paper

NM_020547.3

p.I257M

c.771T>G

1 paper

NM_020547.3

p.V258I

c.772G>A

2 papers

NM_020547.3

p.R259*

c.775C>T