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.K1030insFs

c.3089_3090ins4

Surrounding Variants

1 paper

NM_000179.3

p.D1031insFs

c.3091dupG

1 paper

NM_000179.3

p.K1030fs

c.3088_3089fs

1 paper

NM_000179.3

p.K1030*

c.3088A>T

1 paper

NM_000179.3

p.D1031fs

c.3091_3092fs

1 paper

NM_000179.3

p.D1031V

c.3092A>T

1 paper

NM_000179.3

p.K1030_D1031delFs

c.3089_3092del4

1 paper

NM_000179.3

p.M1033_R1034delFs

c.3097_3100del4

6 papers

NM_000179.3

p.S1028*

c.3083C>A

6 papers

NM_000179.3

p.S1028*

c.3083C>G

2 papers

NM_000179.3

p.C1032Y

c.3095G>A

1 paper

NM_000179.3

p.C1032F

c.3095G>T

1 paper

NM_000179.3

p.C1032*

c.3096C>A