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

15 papers

NM_000179.3

p.R1172fs

c.3514_3515fs

Surrounding Variants

1 paper

NM_000179.3

p.R1172insFs

c.3514_3515insT

1 paper

NM_000179.3

p.R1172*

c.3514A>T

23 papers

NM_000179.3

p.R1172fs

c.3514_3515fs

2 papers

NM_000179.3

p.R1172_V1173delFs

c.3516_3519del4

1 paper

NM_000179.3

p.R1172I

c.3515G>T

43 papers

NM_000179.3

p.R1172insFs

c.3514dupA

3 papers

NM_000179.3

p.R1172insFs

c.3514_3515insAA

1 paper

NM_000179.3

p.R1172insFs

c.3514_3515ins4

1 paper

NM_000179.3

p.R1172_V1173insFs

c.3516_3517dupAG

12 papers

NM_000179.3

p.R1172_V1173delFs

c.3516_3517delAG

1 paper

NM_000179.3

p.R1172_R1176del0

c.3516_3527del12

2 papers

NM_000179.3

p.V1173M

c.3517G>A