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.D934N

c.2800G>A

Surrounding Variants

1 paper

NM_000179.3

p.D934H

c.2800G>C

1 paper

NM_000179.3

p.D934fs

c.2800_2801fs

2 papers

NM_000179.3

p.S935delFs

c.2804_2805delCT

1 paper

NM_000179.3

p.D934_Q939delFs

c.2802_2815del14

1 paper

NM_000179.3

p.F933S

c.2798T>C

1 paper

NM_000179.3

p.S935T

c.2803T>A

1 paper

NM_000179.3

p.S935fs

c.2803_2804fs

3 papers

NM_000179.3

p.S935insFs

c.2805dupT

1 paper

NM_000179.3

p.S935_D936insFs

c.2805_2806insTT

1 paper

NM_000179.3

p.S935C

c.2804C>G

3 papers

NM_000179.3

p.S935F

c.2804C>T

3 papers

NM_000179.3

p.S935_D936delFs

c.2805_2806delTG