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.D1171delFs

c.3511delG

Surrounding Variants

1 paper

NM_000179.3

p.D1171delFs

c.3511_3512delGA

6 papers

NM_000179.3

p.D1171fs

c.3511_3512fs

4 papers

NM_000179.3

p.D1171_R1172delFs

c.3513_3514delTA

1 paper

NM_000179.3

p.D1171fs

c.3511_3512fs

2 papers

NM_000179.3

p.D1171_T1175delFs

c.3513_3523del11

1 paper

NM_000179.3

p.I1170delFs

c.3509delT

1 paper

NM_000179.3

p.R1172_R1176del0

c.3516_3527del12

1 paper

NM_000179.3

p.I1170fs

c.3508_3509fs

1 paper

NM_000179.3

p.I1170_D1171del2

c.3508_3512del6

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