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.Y1066fs

c.3196_3197fs

Surrounding Variants

6 papers

NM_000179.3

p.Y1066C

c.3197A>G

1 paper

NM_000179.3

p.N1065N

c.3195C>T

1 paper

NM_000179.3

p.Y1066_S1067delFs

c.3198_3199delTA

1 paper

NM_000179.3

p.N1065delFs

c.3195delC

1 paper

NM_000179.3

p.Y1066*

c.3198T>A

1 paper

NM_000179.3

p.Y1066*

c.3198T>G

5 papers

NM_000179.3

p.N1065fs

c.3193_3194fs

5 papers

NM_000179.3

p.N1065_S1067delFs

c.3195_3199del5

1 paper

NM_000179.3

p.S1067N

c.3200G>A

2 papers

NM_000179.3

p.A1064V

c.3191C>T

1 paper

NM_000179.3

p.S1067_R1068insFs

c.3201_3202insA

2 papers

NM_000179.3

p.R1068G

c.3202C>G