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.T6insFs

c.17dupC

Surrounding Variants

4 papers

NM_000179.3

p.T6P

c.16A>C

1 paper

NM_000179.3

p.T6_P12delFs

c.18_34del17

1 paper

NM_000179.3

p.S5R

c.15C>A

1 paper

NM_000179.3

p.T6N

c.17C>A

1 paper

NM_000179.3

p.T6insFs

c.17_18insT

1 paper

NM_000179.3

p.S5R

c.15C>G

2 papers

NM_000179.3

p.T6I

c.17C>T

1 paper

NM_000179.3

p.T6T

c.18C>A

1 paper

NM_000179.3

p.T6_L7ins1

c.18_19insGCG

3 papers

NM_000179.3

p.S5N

c.14G>A

4 papers

NM_000179.3

p.S5insFs

c.15dupC

1 paper

NM_000179.3

p.S5Fs

c.14delinsTTFs