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

1 paper

NM_000179.3

p.G46_D47insA

c.136_140ins3

Surrounding Variants

1 paper

NM_000179.3

p.G46R

c.136G>A

1 paper

NM_000179.3

p.G46R

c.136G>C

4 papers

NM_000179.3

p.G45G

c.135C>T

1 paper

NM_000179.3

p.G46delFs

c.137_138delGG

2 papers

NM_000179.3

p.G46E

c.137G>A

5 papers

NM_000179.3

p.G46V

c.137G>T

1 paper

NM_000179.3

p.G45D

c.134G>A

1 paper

NM_000179.3

p.D47N

c.139G>A

3 papers

NM_000179.3

p.G45R

c.133G>C

1 paper

NM_000179.3

p.G45_G46insGA

c.133_137ins6

1 paper

NM_000179.3

p.G45C

c.133G>T

1 paper

NM_000179.3

p.D47Y

c.139G>T