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.E946fs

c.2836_2837fs

Surrounding Variants

1 paper

NM_001281492.2

p.E816Q

c.2446G>C

6 papers

NM_000179.3

p.E946*

c.2836G>T

1 paper

NM_000179.3

p.E946_N947del2

c.2836_2840del6

1 paper

NM_000179.3

p.E946D

c.2838A>T

1 paper

NM_000179.3

p.N947_E948delFs

c.2841_2844del4

1 paper

NM_000179.3

p.N947D

c.2839A>G

1 paper

NM_000179.3

p.E946delFs

c.2836_2837delGA

1 paper

NM_000179.3

p.I944_R945delFs

c.2832_2833delAA

1 paper

NM_000179.3

p.R945del1

c.2833_2835delAGA

1 paper

NM_000179.3

p.I944fs

c.2830_2831fs

3 papers

NM_000179.3

p.I944V

c.2830A>G

1 paper

NM_000179.3

p.E948fs

c.2842_2843fs