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.V1231I

c.3691G>A

Surrounding Variants

4 papers

NM_000179.3

p.V1232del1

c.3694_3695delGTT

1 paper

NM_000179.3

p.V1231insFs

c.3692_3693insG

1 paper

NM_000179.3

p.A1230_V1231insFs

c.3690_3693dup4

3 papers

NM_000179.3

p.A1230G

c.3689C>G

1 paper

NM_000179.3

p.V1232L

c.3694G>C

1 paper

NM_000179.3

p.V1232insFs

c.3696dupT

2 papers

NM_000179.3

p.K1233insFs

c.3699dupA

3 papers

NM_000179.3

p.K1233_E1234insFs

c.3699_3702dup4

1 paper

NM_000179.3

p.K1233delFs

c.3698delA

11 papers

NM_000179.3

p.K1233_E1234delFs

c.3699_3702del4

1 paper

NM_000179.3

p.N1229insFs

c.3685_3686ins4

2 papers

NM_000179.3

p.K1233fs

c.3697_3698fs