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.K145E

c.433A>G

Surrounding Variants

1 paper

NM_000179.3

p.K145*

c.433A>T

1 paper

NM_000179.3

p.S144N

c.431G>A

1 paper

NM_000179.3

p.S144T

c.431G>C

52 papers

NM_000179.3

p.S144I

c.431G>T

2 papers

NM_000179.3

p.S144delFs

c.432delC

1 paper

NM_000179.3

p.R146_L147insA

c.436_440ins3

1 paper

NM_000179.3

p.S144_K145ins5

c.430_434ins15

1 paper

NM_000179.3

p.R146K

c.437G>A

1 paper

NM_000179.3

p.R146T

c.437G>C

1 paper

NM_000179.3

p.L147_G153insFs

c.439_457dup19

1 paper

NM_000179.3

p.V143V

c.429T>C

2 papers

NM_000179.3

p.V143G

c.428T>G