Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000179.3

p.Y1038*

c.3114T>A

Surrounding Variants

1 paper

NM_000179.3

p.Y1038*

c.3114T>G

1 paper

NM_000179.3

p.N1039_D1046del8

c.3115_3137del24

1 paper

NM_000179.3

p.N1039_V1051del13

c.3115_3152del39

2 papers

NM_000179.3

p.N1039_F1040insC

c.3115_3119ins3

1 paper

NM_000179.3

p.Y1038delFs

c.3114delT

1 paper

NM_000179.3

p.Y1038fs

c.3112_3113fs

4 papers

NM_000179.3

p.F1037L

c.3111C>A

3 papers

NM_000179.3

p.F1037L

c.3111C>G

5 papers

NM_000179.3

p.F1040delFs

c.3119_3120delTT

3 papers

NM_000179.3

p.F1040fs

c.3118_3119fs

2 papers

NM_000179.3

p.F1040fs

c.3118_3119fs

3 papers

NM_000179.3

p.F1037L

c.3109T>C