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.F10V

c.28T>G

Surrounding Variants

1 paper

NM_000179.3

p.F10I

c.28T>A

4 papers

NM_000179.3

p.F11insFs

c.31_32ins4

1 paper

NM_000179.3

p.S9_F10ins1

c.27_28insGTA

2 papers

NM_000179.3

p.F10S

c.29T>C

1 paper

NM_000179.3

p.F10_F11ins1

c.30_31insGGA

1 paper

NM_000179.3

p.F11delFs

c.32delT

2 papers

NM_000179.3

p.S9insFs

c.26dupG

1 paper

NM_000179.3

p.S9G

c.25A>G

1 paper

NM_000179.3

p.S9C

c.25A>T

1 paper

NM_000179.3

p.F11L

c.31T>C

1 paper

NM_000179.3

p.F11ins1

c.31_32insGAG

1 paper

NM_000179.3

p.F11insFs

c.32_33ins4