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.F11C

c.32T>G

Surrounding Variants

1 paper

NM_000179.3

p.F11Y

c.32T>A

1 paper

NM_000179.3

p.F11S

c.32T>C

3 papers

NM_000179.3

p.P12insFs

c.35dupC

1 paper

NM_000179.3

p.F11insFs

c.32_33insTG

1 paper

NM_000179.3

p.F11L

c.33C>A

1 paper

NM_000179.3

p.F11_P12ins2

c.33_34ins6

2 papers

NM_000179.3

p.F11L

c.33C>G

1 paper

NM_000179.3

p.P12_P15del4

c.34_44del12

1 paper

NM_000179.3

p.F11L

c.31T>C

1 paper

NM_000179.3

p.F11ins1

c.31_32insGAG

1 paper

NM_000179.3

p.F11insFs

c.32_33ins4

1 paper

NM_000179.3

p.F11_N21ins3

c.32_61dup30