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.E980Q

c.2938G>C

Surrounding Variants

1 paper

NM_000179.3

p.E980_I981insFs

c.2940_2941ins4

1 paper

NM_000179.3

p.L979L

c.2937G>A

1 paper

NM_000179.3

p.L979P

c.2936T>C

6 papers

NM_000179.3

p.I981V

c.2941A>G

1 paper

NM_000179.3

p.L979L

c.2935C>T

3 papers

NM_000179.3

p.P982delFs

c.2945delC

2 papers

NM_000179.3

p.Q978K

c.2932C>A

1 paper

NM_000179.3

p.P982T

c.2944C>A

1 paper

NM_000179.3

p.P982fs

c.2944_2945fs

1 paper

NM_000179.3

p.P982A

c.2944C>G

9 papers

NM_000179.3

p.Q978*

c.2932C>T

1 paper

NM_000179.3

p.Q978delFs

c.2933delA