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

4 papers

NM_000179.3

p.E1234Q

c.3700G>C

Surrounding Variants

2 papers

NM_000179.3

p.E1234fs

c.3700_3701fs

10 papers

NM_000179.3

p.E1234*

c.3700G>T

1 paper

NM_000179.3

p.E1234_A1236ins1

c.3701_3706dup6

1 paper

NM_000179.3

p.L1235_A1236delFs

c.3705_3708del4

2 papers

NM_000179.3

p.K1233fs

c.3697_3698fs

1 paper

NM_000179.3

p.K1233E

c.3697A>G

1 paper

NM_000179.3

p.K1233*

c.3697A>T

4 papers

NM_000179.3

p.K1233fs

c.3697_3698fs

1 paper

NM_000179.3

p.L1235fs

c.3703_3704fs

1 paper

NM_000179.3

p.L1235P

c.3704T>C

2 papers

NM_000179.3

p.K1233insFs

c.3699dupA

3 papers

NM_000179.3

p.K1233_E1234insFs

c.3699_3702dup4