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

5 papers

NM_020547.3

p.R407*

c.1219C>T

Surrounding Variants

6 papers

NM_020547.3

p.R406Q

c.1217G>A

3 papers

NM_020547.3

p.R406*

c.1216C>T

1 paper

NM_020547.3

p.A408P

c.1222G>C

1 paper

NM_020547.3

p.L405delFs

c.1215delC

1 paper

NM_020547.3

p.D409Y

c.1225G>T

1 paper

NM_020547.3

p.A404D

c.1211C>A

1 paper

NM_020547.3

p.W401*

c.1203G>A

1 paper

NM_020547.3

p.W401*

c.1202G>A

1 paper

NM_020547.3

p.L413M

c.1237T>A

1 paper

NM_020547.3

p.D397N

c.1189G>A

1 paper

NM_020547.3

p.D397H

c.1189G>C

2 papers

NM_020547.3

p.L396fs

c.1186_1187fs