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.L1354delFs

c.4061delT

Surrounding Variants

1 paper

NM_000179.3

p.L1354fs

c.4060_4061fs

5 papers

NM_000179.3

p.L1354_T1355insFs

c.4062_4065dup4

8 papers

NM_000179.3

p.L1354Q

c.4061T>A

1 paper

NM_000179.3

p.L1353W

c.4058T>G

4 papers

NM_000179.3

p.T1355fs

c.4063_4064fs

1 paper

NM_000179.3

p.T1355A

c.4063A>G

1 paper

NM_000179.3

p.L1353V

c.4057T>G

1 paper

NM_000179.3

p.L1353fs

c.4057_4058fs

1 paper

NM_000179.3

p.T1355_L1356delFs

c.4065_4068del4

1 paper

NM_000179.3

p.K1352T

c.4055A>C

1 paper

NM_000179.3

p.T1355_L1356insFs

c.4065_4066ins4

1 paper

NM_000179.3

p.T1355_L1356insFs

c.4065_4066ins4